question
stringlengths 84
268
| answer
stringlengths 6
879
| reference_sequence
stringlengths 4.1k
4.1k
| mutated_sequence
stringlengths 4.1k
4.1k
| cleaned_pathogenicity
stringclasses 2
values | __index_level_0__
int64 67
343k
|
|---|---|---|---|---|---|
Chromosome X, position 149482906, gene IDS (iduronate 2-sulfatase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
ATGCAAAATGTCTAGAATCACTAGTTCTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAA
|
ATGCAAAATGTCTAGAATCACTAGTTCTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGT
|
pathogenic
| 339,686 |
Considering the variant on chromosome X, location 149482932, involving gene IDS (iduronate 2-sulfatase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
CTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCAT
|
CTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATN
|
pathogenic
| 339,689 |
A genetic variant at chromosome X, position 149482935, affecting gene IDS (iduronate 2-sulfatase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
CTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTG
|
CTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCTGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGN
|
pathogenic
| 339,690 |
A genetic alteration at chromosome X, position 149482996, in gene IDS (iduronate 2-sulfatase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
AGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGT
|
AGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTN
|
pathogenic
| 339,699 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 149483082, gene IDS (iduronate 2-sulfatase): what disease(s) if pathogenic?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
AAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTC
|
AAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCN
|
pathogenic
| 339,704 |
Gene IDS (iduronate 2-sulfatase) variant at chromosome X, position 149483126—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
AATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACT
|
AATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTN
|
pathogenic
| 339,705 |
Chromosome X, position 149483129, gene IDS (iduronate 2-sulfatase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
GCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTT
|
GCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTT
|
pathogenic
| 339,706 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 149483129, gene IDS (iduronate 2-sulfatase). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
GCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTT
|
GCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTN
|
pathogenic
| 339,708 |
Does the variant impacting IDS (iduronate 2-sulfatase) on chromosome X, position 149483181, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
GAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGA
|
GAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTGTTTCACAAATATTTACCTGGAAACACTGGAGACTTTGTAAAGAGAAAATTACTAAAAATTACTCCTTCACTACAGGACAGTAGATATTTAATATTTATTTAGAAAGCTATTGACACTTCTGATGACTACTGATAACTGAGAAGATTCAACATGTTATAAATATGAGTTGTAAATATTCCATCCCTTTTGAGATTATATACACTAAGCTTTTTACTACCACTGGCCTTTCTGGATACTTTCATATTTAGAGAATATAGAACTACATTCTGGGAGATTGACAATGACCTAATATTACACTAATGAAAAGTCTTCACAGTCCTCAAAATAATTTAGAATTTAATGTTTTCTTTAATAAGCAATTAAAATGGAATATTTTCTGCCTCCTGAATAAATACATGTCTGTAACCAACCATCCCTAAAGAAGGATACTAATATATTTTGAGTGATTCAATCCACCCATGGATATAGTCACATCTTTAAATGTTTTCCAGTGTGAACAACAGTCTTTTAATAGATGGCCATTGAGTTCAAGGGTCATATTATTTGCTAACAAATTATTATTTGGGCCAGAAAGTATCTGAAAAAAGTTTAACCAAATTTCCTACACATCTCATATCTCTAGTTTATTAAGCATTATTTATTATTTGGTGTAAAAATTCTACATTAATTACTTCATACATATTTTATCTTGAGATTATGAAATCCCATGGTCTTAGAAACAAAAGATAGACTTTAAGACACTGGCTTCTGCTATTTTTTTTTAACTTTAGATTTGAAAAAGAAACATGGATTACATGTTAACATAATATTTTGAATATATAGGGCTCATAAGATATATTATTAAATTATAAACAAAATAATCAGGAACTTAGTGTGGTGCCTAGTTTGATATATGATTACTTTTTGAAATGCACTAAATTCCACAAATAATGAAAGTATTCTTTGTGTATAATGTTATGTTTGGTTATTATGTATGGTCTTCGTATCCAAAGGTATGACATAACTTGAGTTTGTTTGCTTTGTATTTATTCAGTAAATAAGCCGTAACTGTTTTAAAAAGAGGGAAATTAAAAAAAAAACTGGTCCAATTACCAATTATAAATTTTAATAAAGACTAAACGAAAAGGTTTGGCTGTTACATATTCTCAGGCCAAATTGTTGATGCATGTTTGGATTAACTAGCCCTCAGGCTGCTTCCAATATTATGGGTAATCACAAAACGACCAGCTCTAACTCCTCCTCTCACCAGCTGGAAGGGAGCACATCACATTTGCCATCCATGGTTGGCAAAACTCAAGGCATCAACAACTGGAAAAGATCTCCACCTTGGGAATCATTATACATATTGTGATCCTGCAATGGGTCAGAATCCACAAAATACAGTTCCCCTGCATGGATGTCAGAAAAGTTAGCTAGAAATTCATCAGGATTGAAGCCAACCCACACAGTATACCTATAGTCTATGGTGCGTATGGAATAGCCCATGATCTTTATATCTTTTAAACTCGGCTTGTCAGAATTCCACTGAGGGATGTCTGAAGGCCGGGGATACTGGCTATAGGCAATCAGTTCACGGGGATTACCAGGGAGGTACGGATCCTCTTCCAAGTCACGGAATCGAAAATGCTTCAGAAGGTTCTTGCCTTCTCTGCACAGCTCAACGTGAAATGAAGGAACGGGGCAGCGAGGTGGAACCTGCAGTCCTGCAAGTCCAGCCAGCGTGGGAAAAAGACACAAGTTCCACAAGGTCCATGGATTGCCTGCCTGAAACAGGAAGCGACAGAGCAGAATGGGTTACATTATAAAAGCCTGCCATGGCCAGGCAGGAGCAGTAAAGGAACCTGTCTGGGCTCCATATGTTTTCTTTTTTTAATTTACAACATTTATCTTTAGCAACAGACGTTTAGAAACACCACCTCGGCACCTCACCCTGCATTAATTACTCATCCAATCAAATAGCAGGATGCAAAATTAGGGCCCCACGAGGCTGTTGGCGCTTTTTAAAACAACCTGAATTTTGGAACCACCGATTTAATAACTGACTCAGACAAGGATCATCAATTAAGGCTACAACCACTAGGTAAAAGAGTCTGTTGAGGAACAGGATATTCTGACTCCCACAGGATCACCCCACACATTACTCCCTTCTGGATGTCTGCATTAGAGTTATCTTTGCATTTTATTACGATCAAATACACACACCATGACATTTACCATCGTAACCACTTTTTAGTATACAGTTCAGTGGAATTAAGTACACTTATACTGTTGTGCCATCATTACCACCATCTATCTCCAGAACTCCTCTTAATTTACACAACTGAAACTCTGTCCCCATTAAGTAACAACTCCCCTTTCTCCATCCTCACCCAGCAACTGGAAACCACCATTCTACTTTCTATGTCTATGAACTGGACTACTCTAGATACCTCATAGGAGTGGGATTATACAGTATTTGTCCTTTTGTGACTGACTTTTTTCACTTAGCATAATGTCCTCAAGGCTCATCCATGATGTAGCATGTGTCAGTTTCCTTCCTTTTTAAGACTGAATAATATTCCATTGCATGGACGGACCACATTTTGTCTGTTCTTCTGTCAATAGACATCTGAATTGCTTCCACTTTCTGGTTACTGTGAATAGTGCTGCTATGAACAGTAATGTACAACCTTTGATTGAATACCTGTTTTCAGCTCTGTGGATATATACCTAGGAGTGGAACTTCTGGGCCATAGAGTAATTCTATGTTTAACTCTGAGGATCCACCAAATTCTTTTCCACAGTGGCTGCACCATTTTACATTCTTACCAGCAATGCACAAGTGTTCCAATTTTTCCATATAATCACTAACACTCTTAACACTTGTTTCATTCTTTTTTTTTAGACGGGGTCTAGCCCTGTCTCCAGGATGGAGTTCAGTGGCGCAATCTCGGCTCAGCTCACTGCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCTTGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGCCCAGCCTTTCACAGCTTTTGTTGTTGTTTTTTATTAATAGCCATCCTAGTGGGTATGAAGTAGTATTTCATTGCGGTTCATCCATATTTAAAGTCTAAATACTGTACTTTATATTGATTCCTGTTAAAATTGCAATTGGATTTGCACTACCATTCTGGCCCTTCTGGATCTTTAAGACAGTGCTTTATCATGCTTGATTTCATTTTCTAGACACTTAATTTTTAAGTAAAATAAAAAGAAAACAAGTAAAGAAAGTTGAAAAAGGTACCTTTACAATGGCAAGATCTGGCTGATGCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGANN
|
pathogenic
| 339,713 |
Regarding the variant at chromosome X and position 149486956, affecting gene IDS: benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
GCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCACAAGACAGTGGCAGTCTGGTCCAAGACAGTGGCAGGCGAAGTGGTGGGAAGTGGTACACAGAGTCTGAATGGAGTGTGACAGGCTTTCTCATAGACTGAATATTGCATATGGAGTAAGAGAAGAACAGGGGTTGAGATTATTCCATGATTTTTTGGCATGAGTGACTATTCTCATTTCTTGAGGACAAGAAGAGTGTTGAAGGAAAAGCTGAAGATGAAAGATGTGAAGTCCAGCTTTGGATATGTTAGGCTGGCTAAGTGGGAAAGACTATTGGAAACAAAAGTCTGAAGTTCAGGGAAAAGACACAGCTAGAGATAAAATTTGGAAATAAACTGAAAGGCCGTGCAGTTACATCAATTTCTAAATTGCTGAACACTTCCCAACAAAAGTTTCAGAAAAGATTCTCAACCAATCAGAAGATCTTTCCCAGCAAACAAAGGGCTAAAATCATGCCTTGAAACTGTTTAACCTTTCTATCAATGACATGAAAGAAGACAGGACATGCAGTGCACAAAAATCAAAGTGCAAAAAATAAAATTGGGTAGTATAAAGCAAGCTCAGAAAGATCCAGAAAGGCCCGAATGATGGTCCAGAACCAAGACAAATTTAAACAGGAATCAATATACAGTACAAGATTTAGATGTTAAGGATGGATTAAATGCTTAAGTCCAGAAAGGGGGCAATCTGGTTTAGCATAGTTCATAGAAGAGGCACTCCAAAAAGAGCAAACGTCATACGTCATTTCAGAGACAGTGTACAACCTGTCCCTGAAATGCACTGGGCAGATCAAGTCAGGATAGAACTCACAAGAACCCATACAGGTTGCCCACACATCCAGGAGGGGTATCTGGTCCAACTGGTATTCTGGAAGTGCTTTCTCAAACTGAAACTTTTTGGAAGACAGAGACCAGGACAACCACGCGTCTAAACACTACCTTGTGACGAATGGTTGAAGGGCTGGGGATTTCAGCCTAGAGAAGAGAAGATATTGGTGGATGGACAGGGTCGGGGGCATCAGTGCTGTTTTCAAAGCTTTGAAGGACTGGCACATGGAAGTCAAAGTAAACTTGCCCTTCACTGCTGGGGAGGGCAGAGTAGAATCACCTGGTAGATTTTACAGATCTAGTGGTTCACTAGATTGATGAGCTGTCAAAATGGAAAATGTGCCCCCCACAAAGAAGGCTGAGTCCCTACCAAAAGTGCGCATCGAGGGAAAGGATTCTCCTCGTCTGTTACGGGGGCAGCCCCTTACTCTAAGCTCTGGAGCAGGCTCTTGTAGACTGTACCACAGCCCTCCCCATCTTGGGGATGCACCTGTTCCTTTGTCCATCATCATCCCACAAGGCTCCTTGTGGACAGGGGCCATACTTGTCAATTCTGGTTCTGTCACTCTTTCCCCACCCAGAGTATGGGAGATGTTCAGAAAGCGTGTGCTGACCACAAAATGTTGAGAAGAAATTCCAACACAAGGCAGGAAGGGGGGGTCTGTGTAACCCCCAAAGCCTATGATTCAATAAAGTGGTTCACATATAAACTAAAGGTGATCTTACTGTCAAGCAATATCATTTCAGCATATTTTATACCTGGCTCCATCAACTGTGAGGCGGAATCAAAAGGGTCGAGGTAAGGGAAAAGCTTCTCGCCTGCCTCCGGAAGTGAAGCCGTCCTTCCAGGAACATAGAATATCAGGGGAACATGGGTAGCAACATCAAAATTGCTGTATTTGGCCCATTCTCCATGTTCACCTAGAGCCCACCCTAGTTCATAAAAAGCACAGAATGACAGAAAATGAATAATCATCATACCACAGCTTGTTTATTTTAGATACCATTTCATTTCCTGTTGTAAAAACCAGAGGAAGTAGAAACTCATCACCTAGAAGAAAAATATTCACTTGGAATTACCACAGAAAGGGTTATTTCAACTGAATGCTGCTTTATTCAAAATCAGGTATTTGTCCTCATGAGGAAACCTTTAAAAAAGAAAAAATAATTAAATTCCCAAACTCAAATATCTTAACAAACTACTAGCAACATATACCTAACGTAGGACTCTGTGGCGGTTCCCACACATGCGTTCCTCCCCTGCTAAGACATGCTCATTCTTGACAGGCTGGGAACCCTGAAAGCTGTAGTGTCACCACTGCCCTGTCCTGTGCCTACCTGTCTTTTGACTCATGCCCTACGAGGTCAGGTTTTCAGTTTGGGGTATGTGCCACCTAACAGTGAGCTGTGGAACTGCAACACACTCGGCAAATTCAAAAAAGACAAGGACATCTTCGTTGATTTTTAAGACATACCATAGATAGGGTAAACCAAAACCTCTCATTTCAGATCCTTAACCTCAATTAAAAACAACCCTTCATGCCTATTTAAAACATCCCTTGCAAAAGATGGTTTGAATATTCCAAGTTGGAAATACCCAGTCTTTTAAAGTTACAGCACCCTTTTTGATACAAAAAATGTGCATGACAGAAATTGTACAGTGAGTAGTGTTATAAAAATAACCAAACACACCAAAAGCTGCCACGGGTAAATTTGAGAAAGTGTTGAAATGTACCGCACAGCATGAGACCTTGCTGGCTCCGTCTAATAGATGACGCTGGGGCTGCAAATGATGTCCCAGCCTTCCAGGGCCTGTGGTCTCCAGAACAGGGCTGAAACCTGTTCTGAGTTGACAGTGCTTTCCCAAGGAGACCCCAAGTTGAGAGGACCCTCTTACCCACTCATCAATAATCAAAGCAGACTTGATGCCCATCAGAGATGCCCAATGATTCTGGTGAGCCGTTCCTCCCTCTGGCTGTCAGTACTGGGGAGTATGGTGGGGACTTTCAGATAGCTCAGTGGAGCTCAGAAAGAGAGGGAGTTCCCCCTGACACCCGCCCCAGTCAGTAAGCCCCGGGGCCTGAGGGGCATCCCCACTGCTCGACCTCTCCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTT
|
GCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCACAAGACAGTGGCAGTCTGGTCCAAGACAGTGGCAGGCGAAGTGGTGGGAAGTGGTACACAGAGTCTGAATGGAGTGTGACAGGCTTTCTCATAGACTGAATATTGCATATGGAGTAAGAGAAGAACAGGGGTTGAGATTATTCCATGATTTTTTGGCATGAGTGACTATTCTCATTTCTTGAGGACAAGAAGAGTGTTGAAGGAAAAGCTGAAGATGAAAGATGTGAAGTCCAGCTTTGGATATGTTAGGCTGGCTAAGTGGGAAAGACTATTGGAAACAAAAGTCTGAAGTTCAGGGAAAAGACACAGCTAGAGATAAAATTTGGAAATAAACTGAAAGGCCGTGCAGTTACATCAATTTCTAAATTGCTGAACACTTCCCAACAAAAGTTTCAGAAAAGATTCTCAACCAATCAGAAGATCTTTCCCAGCAAACAAAGGGCTAAAATCATGCCTTGAAACTGTTTAACCTTTCTATCAATGACATGAAAGAAGACAGGACATGCAGTGCACAAAAATCAAAGTGCAAAAAATAAAATTGGGTAGTATAAAGCAAGCTCAGAAAGATCCAGAAAGGCCCGAATGATGGTCCAGAACCAAGACAAATTTAAACAGGAATCAATATACAGTACAAGATTTAGATGTTAAGGATGGATTAAATGCTTAAGTCCAGAAAGGGGGCAATCTGGTTTAGCATAGTTCATAGAAGAGGCACTCCAAAAAGAGCAAACGTCATACGTCATTTCAGAGACAGTGTACAACCTGTCCCTGAAATGCACTGGGCAGATCAAGTCAGGATAGAACTCACAAGAACCCATACAGGTTGCCCACACATCCAGGAGGGGTATCTGGTCCAACTGGTATTCTGGAAGTGCTTTCTCAAACTGAAACTTTTTGGAAGACAGAGACCAGGACAACCACGCGTCTAAACACTACCTTGTGACGAATGGTTGAAGGGCTGGGGATTTCAGCCTAGAGAAGAGAAGATATTGGTGGATGGACAGGGTCGGGGGCATCAGTGCTGTTTTCAAAGCTTTGAAGGACTGGCACATGGAAGTCAAAGTAAACTTGCCCTTCACTGCTGGGGAGGGCAGAGTAGAATCACCTGGTAGATTTTACAGATCTAGTGGTTCACTAGATTGATGAGCTGTCAAAATGGAAAATGTGCCCCCCACAAAGAAGGCTGAGTCCCTACCAAAAGTGCGCATCGAGGGAAAGGATTCTCCTCGTCTGTTACGGGGGCAGCCCCTTACTCTAAGCTCTGGAGCAGGCTCTTGTAGACTGTACCACAGCCCTCCCCATCTTGGGGATGCACCTGTTCCTTTGTCCATCATCATCCCACAAGGCTCCTTGTGGACAGGGGCCATACTTGTCAATTCTGGTTCTGTCACTCTTTCCCCACCCAGAGTATGGGAGATGTTCAGAAAGCGTGTGCTGACCACAAAATGTTGAGAAGAAATTCCAACACAAGGCAGGAAGGGGGGGTCTGTGTAACCCCCAAAGCCTATGATTCAATAAAGTGGTTCACATATAAACTAAAGGTGATCTTACTGTCAAGCAATATCATTTCAGCATATTTTATACCTGGCTCCATCAACTGTGAGGCGGAATCAAAAGGTCGAGGTAAGGGAAAAGCTTCTCGCCTGCCTCCGGAAGTGAAGCCGTCCTTCCAGGAACATAGAATATCAGGGGAACATGGGTAGCAACATCAAAATTGCTGTATTTGGCCCATTCTCCATGTTCACCTAGAGCCCACCCTAGTTCATAAAAAGCACAGAATGACAGAAAATGAATAATCATCATACCACAGCTTGTTTATTTTAGATACCATTTCATTTCCTGTTGTAAAAACCAGAGGAAGTAGAAACTCATCACCTAGAAGAAAAATATTCACTTGGAATTACCACAGAAAGGGTTATTTCAACTGAATGCTGCTTTATTCAAAATCAGGTATTTGTCCTCATGAGGAAACCTTTAAAAAAGAAAAAATAATTAAATTCCCAAACTCAAATATCTTAACAAACTACTAGCAACATATACCTAACGTAGGACTCTGTGGCGGTTCCCACACATGCGTTCCTCCCCTGCTAAGACATGCTCATTCTTGACAGGCTGGGAACCCTGAAAGCTGTAGTGTCACCACTGCCCTGTCCTGTGCCTACCTGTCTTTTGACTCATGCCCTACGAGGTCAGGTTTTCAGTTTGGGGTATGTGCCACCTAACAGTGAGCTGTGGAACTGCAACACACTCGGCAAATTCAAAAAAGACAAGGACATCTTCGTTGATTTTTAAGACATACCATAGATAGGGTAAACCAAAACCTCTCATTTCAGATCCTTAACCTCAATTAAAAACAACCCTTCATGCCTATTTAAAACATCCCTTGCAAAAGATGGTTTGAATATTCCAAGTTGGAAATACCCAGTCTTTTAAAGTTACAGCACCCTTTTTGATACAAAAAATGTGCATGACAGAAATTGTACAGTGAGTAGTGTTATAAAAATAACCAAACACACCAAAAGCTGCCACGGGTAAATTTGAGAAAGTGTTGAAATGTACCGCACAGCATGAGACCTTGCTGGCTCCGTCTAATAGATGACGCTGGGGCTGCAAATGATGTCCCAGCCTTCCAGGGCCTGTGGTCTCCAGAACAGGGCTGAAACCTGTTCTGAGTTGACAGTGCTTTCCCAAGGAGACCCCAAGTTGAGAGGACCCTCTTACCCACTCATCAATAATCAAAGCAGACTTGATGCCCATCAGAGATGCCCAATGATTCTGGTGAGCCGTTCCTCCCTCTGGCTGTCAGTACTGGGGAGTATGGTGGGGACTTTCAGATAGCTCAGTGGAGCTCAGAAAGAGAGGGAGTTCCCCCTGACACCCGCCCCAGTCAGTAAGCCCCGGGGCCTGAGGGGCATCCCCACTGCTCGACCTCTCCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTN
|
pathogenic
| 339,723 |
A mutation at chromosome position 149486971 on chromosome X in gene IDS: benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
AACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCACAAGACAGTGGCAGTCTGGTCCAAGACAGTGGCAGGCGAAGTGGTGGGAAGTGGTACACAGAGTCTGAATGGAGTGTGACAGGCTTTCTCATAGACTGAATATTGCATATGGAGTAAGAGAAGAACAGGGGTTGAGATTATTCCATGATTTTTTGGCATGAGTGACTATTCTCATTTCTTGAGGACAAGAAGAGTGTTGAAGGAAAAGCTGAAGATGAAAGATGTGAAGTCCAGCTTTGGATATGTTAGGCTGGCTAAGTGGGAAAGACTATTGGAAACAAAAGTCTGAAGTTCAGGGAAAAGACACAGCTAGAGATAAAATTTGGAAATAAACTGAAAGGCCGTGCAGTTACATCAATTTCTAAATTGCTGAACACTTCCCAACAAAAGTTTCAGAAAAGATTCTCAACCAATCAGAAGATCTTTCCCAGCAAACAAAGGGCTAAAATCATGCCTTGAAACTGTTTAACCTTTCTATCAATGACATGAAAGAAGACAGGACATGCAGTGCACAAAAATCAAAGTGCAAAAAATAAAATTGGGTAGTATAAAGCAAGCTCAGAAAGATCCAGAAAGGCCCGAATGATGGTCCAGAACCAAGACAAATTTAAACAGGAATCAATATACAGTACAAGATTTAGATGTTAAGGATGGATTAAATGCTTAAGTCCAGAAAGGGGGCAATCTGGTTTAGCATAGTTCATAGAAGAGGCACTCCAAAAAGAGCAAACGTCATACGTCATTTCAGAGACAGTGTACAACCTGTCCCTGAAATGCACTGGGCAGATCAAGTCAGGATAGAACTCACAAGAACCCATACAGGTTGCCCACACATCCAGGAGGGGTATCTGGTCCAACTGGTATTCTGGAAGTGCTTTCTCAAACTGAAACTTTTTGGAAGACAGAGACCAGGACAACCACGCGTCTAAACACTACCTTGTGACGAATGGTTGAAGGGCTGGGGATTTCAGCCTAGAGAAGAGAAGATATTGGTGGATGGACAGGGTCGGGGGCATCAGTGCTGTTTTCAAAGCTTTGAAGGACTGGCACATGGAAGTCAAAGTAAACTTGCCCTTCACTGCTGGGGAGGGCAGAGTAGAATCACCTGGTAGATTTTACAGATCTAGTGGTTCACTAGATTGATGAGCTGTCAAAATGGAAAATGTGCCCCCCACAAAGAAGGCTGAGTCCCTACCAAAAGTGCGCATCGAGGGAAAGGATTCTCCTCGTCTGTTACGGGGGCAGCCCCTTACTCTAAGCTCTGGAGCAGGCTCTTGTAGACTGTACCACAGCCCTCCCCATCTTGGGGATGCACCTGTTCCTTTGTCCATCATCATCCCACAAGGCTCCTTGTGGACAGGGGCCATACTTGTCAATTCTGGTTCTGTCACTCTTTCCCCACCCAGAGTATGGGAGATGTTCAGAAAGCGTGTGCTGACCACAAAATGTTGAGAAGAAATTCCAACACAAGGCAGGAAGGGGGGGTCTGTGTAACCCCCAAAGCCTATGATTCAATAAAGTGGTTCACATATAAACTAAAGGTGATCTTACTGTCAAGCAATATCATTTCAGCATATTTTATACCTGGCTCCATCAACTGTGAGGCGGAATCAAAAGGGTCGAGGTAAGGGAAAAGCTTCTCGCCTGCCTCCGGAAGTGAAGCCGTCCTTCCAGGAACATAGAATATCAGGGGAACATGGGTAGCAACATCAAAATTGCTGTATTTGGCCCATTCTCCATGTTCACCTAGAGCCCACCCTAGTTCATAAAAAGCACAGAATGACAGAAAATGAATAATCATCATACCACAGCTTGTTTATTTTAGATACCATTTCATTTCCTGTTGTAAAAACCAGAGGAAGTAGAAACTCATCACCTAGAAGAAAAATATTCACTTGGAATTACCACAGAAAGGGTTATTTCAACTGAATGCTGCTTTATTCAAAATCAGGTATTTGTCCTCATGAGGAAACCTTTAAAAAAGAAAAAATAATTAAATTCCCAAACTCAAATATCTTAACAAACTACTAGCAACATATACCTAACGTAGGACTCTGTGGCGGTTCCCACACATGCGTTCCTCCCCTGCTAAGACATGCTCATTCTTGACAGGCTGGGAACCCTGAAAGCTGTAGTGTCACCACTGCCCTGTCCTGTGCCTACCTGTCTTTTGACTCATGCCCTACGAGGTCAGGTTTTCAGTTTGGGGTATGTGCCACCTAACAGTGAGCTGTGGAACTGCAACACACTCGGCAAATTCAAAAAAGACAAGGACATCTTCGTTGATTTTTAAGACATACCATAGATAGGGTAAACCAAAACCTCTCATTTCAGATCCTTAACCTCAATTAAAAACAACCCTTCATGCCTATTTAAAACATCCCTTGCAAAAGATGGTTTGAATATTCCAAGTTGGAAATACCCAGTCTTTTAAAGTTACAGCACCCTTTTTGATACAAAAAATGTGCATGACAGAAATTGTACAGTGAGTAGTGTTATAAAAATAACCAAACACACCAAAAGCTGCCACGGGTAAATTTGAGAAAGTGTTGAAATGTACCGCACAGCATGAGACCTTGCTGGCTCCGTCTAATAGATGACGCTGGGGCTGCAAATGATGTCCCAGCCTTCCAGGGCCTGTGGTCTCCAGAACAGGGCTGAAACCTGTTCTGAGTTGACAGTGCTTTCCCAAGGAGACCCCAAGTTGAGAGGACCCTCTTACCCACTCATCAATAATCAAAGCAGACTTGATGCCCATCAGAGATGCCCAATGATTCTGGTGAGCCGTTCCTCCCTCTGGCTGTCAGTACTGGGGAGTATGGTGGGGACTTTCAGATAGCTCAGTGGAGCTCAGAAAGAGAGGGAGTTCCCCCTGACACCCGCCCCAGTCAGTAAGCCCCGGGGCCTGAGGGGCATCCCCACTGCTCGACCTCTCCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTGCAGAAACCAGCATG
|
AACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTTTAATGGAATCACTGTGGCTGCTCTGAGGAGGAAAACCTCCAAGGGATCCAGGGCACAAGCAAGGGGACCATTTAGCAAGCTCTTGCAGTACTTCAGCACAAGACAGTGGCAGTCTGGTCCAAGACAGTGGCAGGCGAAGTGGTGGGAAGTGGTACACAGAGTCTGAATGGAGTGTGACAGGCTTTCTCATAGACTGAATATTGCATATGGAGTAAGAGAAGAACAGGGGTTGAGATTATTCCATGATTTTTTGGCATGAGTGACTATTCTCATTTCTTGAGGACAAGAAGAGTGTTGAAGGAAAAGCTGAAGATGAAAGATGTGAAGTCCAGCTTTGGATATGTTAGGCTGGCTAAGTGGGAAAGACTATTGGAAACAAAAGTCTGAAGTTCAGGGAAAAGACACAGCTAGAGATAAAATTTGGAAATAAACTGAAAGGCCGTGCAGTTACATCAATTTCTAAATTGCTGAACACTTCCCAACAAAAGTTTCAGAAAAGATTCTCAACCAATCAGAAGATCTTTCCCAGCAAACAAAGGGCTAAAATCATGCCTTGAAACTGTTTAACCTTTCTATCAATGACATGAAAGAAGACAGGACATGCAGTGCACAAAAATCAAAGTGCAAAAAATAAAATTGGGTAGTATAAAGCAAGCTCAGAAAGATCCAGAAAGGCCCGAATGATGGTCCAGAACCAAGACAAATTTAAACAGGAATCAATATACAGTACAAGATTTAGATGTTAAGGATGGATTAAATGCTTAAGTCCAGAAAGGGGGCAATCTGGTTTAGCATAGTTCATAGAAGAGGCACTCCAAAAAGAGCAAACGTCATACGTCATTTCAGAGACAGTGTACAACCTGTCCCTGAAATGCACTGGGCAGATCAAGTCAGGATAGAACTCACAAGAACCCATACAGGTTGCCCACACATCCAGGAGGGGTATCTGGTCCAACTGGTATTCTGGAAGTGCTTTCTCAAACTGAAACTTTTTGGAAGACAGAGACCAGGACAACCACGCGTCTAAACACTACCTTGTGACGAATGGTTGAAGGGCTGGGGATTTCAGCCTAGAGAAGAGAAGATATTGGTGGATGGACAGGGTCGGGGGCATCAGTGCTGTTTTCAAAGCTTTGAAGGACTGGCACATGGAAGTCAAAGTAAACTTGCCCTTCACTGCTGGGGAGGGCAGAGTAGAATCACCTGGTAGATTTTACAGATCTAGTGGTTCACTAGATTGATGAGCTGTCAAAATGGAAAATGTGCCCCCCACAAAGAAGGCTGAGTCCCTACCAAAAGTGCGCATCGAGGGAAAGGATTCTCCTCGTCTGTTACGGGGGCAGCCCCTTACTCTAAGCTCTGGAGCAGGCTCTTGTAGACTGTACCACAGCCCTCCCCATCTTGGGGATGCACCTGTTCCTTTGTCCATCATCATCCCACAAGGCTCCTTGTGGACAGGGGCCATACTTGTCAATTCTGGTTCTGTCACTCTTTCCCCACCCAGAGTATGGGAGATGTTCAGAAAGCGTGTGCTGACCACAAAATGTTGAGAAGAAATTCCAACACAAGGCAGGAAGGGGGGGTCTGTGTAACCCCCAAAGCCTATGATTCAATAAAGTGGTTCACATATAAACTAAAGGTGATCTTACTGTCAAGCAATATCATTTCAGCATATTTTATACCTGGCTCCATCAACTGTGAGGCGGAATCAAAAGGGTCGAGGTAAGGGAAGCTTCTCGCCTGCCTCCGGAAGTGAAGCCGTCCTTCCAGGAACATAGAATATCAGGGGAACATGGGTAGCAACATCAAAATTGCTGTATTTGGCCCATTCTCCATGTTCACCTAGAGCCCACCCTAGTTCATAAAAAGCACAGAATGACAGAAAATGAATAATCATCATACCACAGCTTGTTTATTTTAGATACCATTTCATTTCCTGTTGTAAAAACCAGAGGAAGTAGAAACTCATCACCTAGAAGAAAAATATTCACTTGGAATTACCACAGAAAGGGTTATTTCAACTGAATGCTGCTTTATTCAAAATCAGGTATTTGTCCTCATGAGGAAACCTTTAAAAAAGAAAAAATAATTAAATTCCCAAACTCAAATATCTTAACAAACTACTAGCAACATATACCTAACGTAGGACTCTGTGGCGGTTCCCACACATGCGTTCCTCCCCTGCTAAGACATGCTCATTCTTGACAGGCTGGGAACCCTGAAAGCTGTAGTGTCACCACTGCCCTGTCCTGTGCCTACCTGTCTTTTGACTCATGCCCTACGAGGTCAGGTTTTCAGTTTGGGGTATGTGCCACCTAACAGTGAGCTGTGGAACTGCAACACACTCGGCAAATTCAAAAAAGACAAGGACATCTTCGTTGATTTTTAAGACATACCATAGATAGGGTAAACCAAAACCTCTCATTTCAGATCCTTAACCTCAATTAAAAACAACCCTTCATGCCTATTTAAAACATCCCTTGCAAAAGATGGTTTGAATATTCCAAGTTGGAAATACCCAGTCTTTTAAAGTTACAGCACCCTTTTTGATACAAAAAATGTGCATGACAGAAATTGTACAGTGAGTAGTGTTATAAAAATAACCAAACACACCAAAAGCTGCCACGGGTAAATTTGAGAAAGTGTTGAAATGTACCGCACAGCATGAGACCTTGCTGGCTCCGTCTAATAGATGACGCTGGGGCTGCAAATGATGTCCCAGCCTTCCAGGGCCTGTGGTCTCCAGAACAGGGCTGAAACCTGTTCTGAGTTGACAGTGCTTTCCCAAGGAGACCCCAAGTTGAGAGGACCCTCTTACCCACTCATCAATAATCAAAGCAGACTTGATGCCCATCAGAGATGCCCAATGATTCTGGTGAGCCGTTCCTCCCTCTGGCTGTCAGTACTGGGGAGTATGGTGGGGACTTTCAGATAGCTCAGTGGAGCTCAGAAAGAGAGGGAGTTCCCCCTGACACCCGCCCCAGTCAGTAAGCCCCGGGGCCTGAGGGGCATCCCCACTGCTCGACCTCTCCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTGCAGAAACCAGCATGNN
|
pathogenic
| 339,724 |
Determine if the mutation at chromosome X, position 149490323 in gene IDS is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
CCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTGCAGAAACCAGCATGTTTTACTGGCTCCCAGGCGGTTCTGATGGAGGATGTCCCAGGAGGGGACTCTGAGATGGGCTATTTGTAATCTACGGCAACTGCCTCACAACAGAGTGTGTTCGTGGAGAAGAGGAAACTGGGCACCGAGGGCTCAGAAGCAGATGGCAGATAATCAGGAATATGTGAAAAATTATGGCACCTCCATATATAATAAAATATTACAGACATTTCTAAGGGAAAAGGTAGGCTTCTGAGAAATGACACAGAGATTGCCTATGACATTAAGTGTACAAAACCAGGGAACGTTAACAGTACACACAGAACAAGCAATCACATCTTGTGACATACATGTTACAAACATACACATGTATAACATATATCCCTGTGTGCATATGTGCACAACTGATGGCTGGCAGATGGATCCCTAATCCATTGTCATCTGTTAGCCCTGAGCAGGTGGGAGAAAAGGGCAGGATGTTCTGGCCCTGAATTACATGCTCTGTATCCTTTTTTCTTTTCATGATAAGCACATGTTATGATTTACTATTATCCTATTTCATATTTGATGATATGAAAATTATTTTCCTTTCTCTAAGTATAACAGTATTATGGTTATACTTCAAAAGAGGCAATATTTTTCAGAGACAGTGATCGGAAAATGGAACCATCTGGGATTTGCTTCGAAACAATTCAGAGATGGGGGAGTGGGTGAGGATGAGAGGAACAAGACTATGTGAGTGGGAAACGGGGGGAGCTGCTGTTTTATTCCCTGCTCTTGGAATGTTGAAGAATTTAAAAAATGCTTTTAAAAAGATAGTTTCATTTTTGGAAAAGTAGGAAACAGCCTTAGGGGGAGATAAAGACTTGAAAAGCCCAGGCTCTCGGCAGAGAAGACAGCGGGGATAGGGGTGGGAGGGCTGGAGCCAGGCGTGAAGAGCTTGCTGGGCTCTGCCAGGATTGTTCTGGATCCTCTCCACCCAAACTAAAAGTCCTCCAACCCTCCAGGTTAAAAATGGGGGTTACAAGAGCTCTGCCACACAAATGGAGGGTTCCTGCTGCATTCATCAAGAAAAAAAAAAAAGTTGCTGCAAGACCCTCCCCCACCCACCCACACCTATCCGTCAAGCATCTAAGACAGAGGTCTCAGGACTAACAAGCTGATCATAAAAATGCCCCAGGATCCCACTTTGTTTGTGAACCACTGGTTCACAAAAGAGAACACACCCATGTTTATGTCAATGGCAATTTTGCAAAGCATGTTTCACAGGAAAGTTCAGATGTTTTGACTCACCAGGGAATTTCAAAATGCTTACCATGATCCGAGGTAAATGCAATGATGGTGCTGTTGGCCAGCTGAAGATCGTCCAAAGCACTCAAGAGGCGGCCGACCTGTGTATCCAAATATGACACAGAGGCAAAGTAGCTCTGGCGGATTTTCCGCTGCAAATTGAAAAAAAATAAAAATGAGAGTGACTGCAATTTAAATTGCCAAGGCATACAGAGATAATGCTTGCCTGTGCATCTCTCCCAATCCCTACCCCTTAGTTGATGCCCTTAATGATTTTCTCAGCCAAAATGTAACACTCCTTTCCCTACCATCAGCATCACTTCACCCACAGAGTCACAGCAAAATCTGTAGGTCTACAAATAAGATACATTTCTAAGCAAATCAGATTTCACTTTAGGGCACAGATCACAGTGGATGAATGTGTCACCTACTGCTCTGTTGTTTTAAGCTGAAATGTATTGTCTCCTAGCTCTGGAGGCTAGAAGTCCAAGATCAAGGTGCTGGGAGGGCCATTCTCTCCCTGAAGGCTCTAAGTAGAAGAATCTTGCCTCTCCCTAGCTGGTGGTGGTGGCTGTCAGTCCCTGGCATTCCTCAGCTTGCAGCTGTATCACTGTGTCTCCATCTTCATGTGTTCTTCCCGTGTCTCTCTCCCCTCTTCTTAAAGGACACCGATCATATTGGATTAGGAGCCCACCTTACTCCAATATGACCTGATCTTAACTAATTACATCTGCAATAAACCTATTTCCAAATATGGTTACATTCAGCAGTACTGGGGGGTTAGGATGTCAACAGCCCTTTTCAGGGAAAAAAAAATTCATAATTTAACACATAACAGCAACCCTGACTGAGCCTTTCCCTCTGATCACTTGCTAACCCAACAGCAGATTACAACTGCATATCTTCATGAACTATGGCCGTTACGTGGAGCTCATTTCTAACAAACTGTCAGCAGGCAGGAGAAGAGCAAAGGAGATACCAGAGAGCAGCACGTCCTTCACAGTCCCTGAACCCAAGAGGCACTTTGGGAACAGCCAGATCATGCCCTGAAGTAAATGAGCCACCGGCCCCTCCTGGGCTGACTCTCATTCCCAACCTGGTTCACAAATGCTAAGGACAAAAATTAATCTTCCACCCCAAAGAGGGGTGAGAAGAGAGCCGTGTCTTCGCAGACCAGCCCCTGACTTATCAGCTGGACCCACCAGCTTCTTCTCATCACTGCCAGGGTGAGGACAATCATGAGACTCACCCGTTCTCACTTGCAGTCAAGAGAAAAGATATACATCTAGCCTTCCAGCAGGATTATGCTGAGCCCTGGCCTACTTATACTTTCTGGTAGATGAAGTCTTCAGTCTGAAACCTGTGGAACTTTGGTCCTCCTGGGGATGAAAGACACCTGTCAGGATGGCTATGTCCTATACAAAGGTATTCCCTCCTTCCTATGCTAGCCCCTGGACGTAAGGCAATAAGCAGACAAGGTCCTCACCCTTGATGAGCCACCCCATCCAGTGAGGACACAATCATGGAGACAAGAAAATGCTTAATTATCAGTGAGGCCTGCTGGGTCTGTCCTGCAGACCCTGGCCTATGGATGAAATGAGTACTCAGACACAGGTATGCAGCATAAGAGCAGCTAGGTTACTGCCTGGCTCTAGTGGCCAGAGAGCAGCCCCGAGAAGCTGGAGCTGCTGGCTTTTATTCAGTGCAGGCATAATGCCAAAAACCTAGAGCCAACCTGCAGGTAATTAACATTTATTGTTCCCCTTTCAGGGAACCTCACAAGCACAGACGATCAAAGGTCAGTTCCTGGTCAACATAAGTAAACAAGCCTGTTTAAGATAAATTCTCCCACACTCCCTTGTACCTACTCCTTGCCCTCTGCCTCAGGGTTATAGAACAGCTATTCTCCCCTGGGGCTCTGCAGAACCTTCTGACCTTTCAGAAGGTTTGCATCCTTTCCCTATAGTTTTTCCCACCACTCTGACCGATCCCCCACAGAGGCCCAGGGGTGACACAGGGGAATAAGCCCTCAAATCTGCCTGGGAGATTCAGGGAAGGCTTCACAGAGGAGTTAGAATTTGA
|
CCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTGCAGAAACCAGCATGTTTTACTGGCTCCCAGGCGGTTCTGATGGAGGATGTCCCAGGAGGGGACTCTGAGATGGGCTATTTGTAATCTACGGCAACTGCCTCACAACAGAGTGTGTTCGTGGAGAAGAGGAAACTGGGCACCGAGGGCTCAGAAGCAGATGGCAGATAATCAGGAATATGTGAAAAATTATGGCACCTCCATATATAATAAAATATTACAGACATTTCTAAGGGAAAAGGTAGGCTTCTGAGAAATGACACAGAGATTGCCTATGACATTAAGTGTACAAAACCAGGGAACGTTAACAGTACACACAGAACAAGCAATCACATCTTGTGACATACATGTTACAAACATACACATGTATAACATATATCCCTGTGTGCATATGTGCACAACTGATGGCTGGCAGATGGATCCCTAATCCATTGTCATCTGTTAGCCCTGAGCAGGTGGGAGAAAAGGGCAGGATGTTCTGGCCCTGAATTACATGCTCTGTATCCTTTTTTCTTTTCATGATAAGCACATGTTATGATTTACTATTATCCTATTTCATATTTGATGATATGAAAATTATTTTCCTTTCTCTAAGTATAACAGTATTATGGTTATACTTCAAAAGAGGCAATATTTTTCAGAGACAGTGATCGGAAAATGGAACCATCTGGGATTTGCTTCGAAACAATTCAGAGATGGGGGAGTGGGTGAGGATGAGAGGAACAAGACTATGTGAGTGGGAAACGGGGGGAGCTGCTGTTTTATTCCCTGCTCTTGGAATGTTGAAGAATTTAAAAAATGCTTTTAAAAAGATAGTTTCATTTTTGGAAAAGTAGGAAACAGCCTTAGGGGGAGATAAAGACTTGAAAAGCCCAGGCTCTCGGCAGAGAAGACAGCGGGGATAGGGGTGGGAGGGCTGGAGCCAGGCGTGAAGAGCTTGCTGGGCTCTGCCAGGATTGTTCTGGATCCTCTCCACCCAAACTAAAAGTCCTCCAACCCTCCAGGTTAAAAATGGGGGTTACAAGAGCTCTGCCACACAAATGGAGGGTTCCTGCTGCATTCATCAAGAAAAAAAAAAAAGTTGCTGCAAGACCCTCCCCCACCCACCCACACCTATCCGTCAAGCATCTAAGACAGAGGTCTCAGGACTAACAAGCTGATCATAAAAATGCCCCAGGATCCCACTTTGTTTGTGAACCACTGGTTCACAAAAGAGAACACACCCATGTTTATGTCAATGGCAATTTTGCAAAGCATGTTTCACAGGAAAGTTCAGATGTTTTGACTCACCAGGGAATTTCAAAATGCTTACCATGATCCGAGGTGCTGTTGGCCAGCTGAAGATCGTCCAAAGCACTCAAGAGGCGGCCGACCTGTGTATCCAAATATGACACAGAGGCAAAGTAGCTCTGGCGGATTTTCCGCTGCAAATTGAAAAAAAATAAAAATGAGAGTGACTGCAATTTAAATTGCCAAGGCATACAGAGATAATGCTTGCCTGTGCATCTCTCCCAATCCCTACCCCTTAGTTGATGCCCTTAATGATTTTCTCAGCCAAAATGTAACACTCCTTTCCCTACCATCAGCATCACTTCACCCACAGAGTCACAGCAAAATCTGTAGGTCTACAAATAAGATACATTTCTAAGCAAATCAGATTTCACTTTAGGGCACAGATCACAGTGGATGAATGTGTCACCTACTGCTCTGTTGTTTTAAGCTGAAATGTATTGTCTCCTAGCTCTGGAGGCTAGAAGTCCAAGATCAAGGTGCTGGGAGGGCCATTCTCTCCCTGAAGGCTCTAAGTAGAAGAATCTTGCCTCTCCCTAGCTGGTGGTGGTGGCTGTCAGTCCCTGGCATTCCTCAGCTTGCAGCTGTATCACTGTGTCTCCATCTTCATGTGTTCTTCCCGTGTCTCTCTCCCCTCTTCTTAAAGGACACCGATCATATTGGATTAGGAGCCCACCTTACTCCAATATGACCTGATCTTAACTAATTACATCTGCAATAAACCTATTTCCAAATATGGTTACATTCAGCAGTACTGGGGGGTTAGGATGTCAACAGCCCTTTTCAGGGAAAAAAAAATTCATAATTTAACACATAACAGCAACCCTGACTGAGCCTTTCCCTCTGATCACTTGCTAACCCAACAGCAGATTACAACTGCATATCTTCATGAACTATGGCCGTTACGTGGAGCTCATTTCTAACAAACTGTCAGCAGGCAGGAGAAGAGCAAAGGAGATACCAGAGAGCAGCACGTCCTTCACAGTCCCTGAACCCAAGAGGCACTTTGGGAACAGCCAGATCATGCCCTGAAGTAAATGAGCCACCGGCCCCTCCTGGGCTGACTCTCATTCCCAACCTGGTTCACAAATGCTAAGGACAAAAATTAATCTTCCACCCCAAAGAGGGGTGAGAAGAGAGCCGTGTCTTCGCAGACCAGCCCCTGACTTATCAGCTGGACCCACCAGCTTCTTCTCATCACTGCCAGGGTGAGGACAATCATGAGACTCACCCGTTCTCACTTGCAGTCAAGAGAAAAGATATACATCTAGCCTTCCAGCAGGATTATGCTGAGCCCTGGCCTACTTATACTTTCTGGTAGATGAAGTCTTCAGTCTGAAACCTGTGGAACTTTGGTCCTCCTGGGGATGAAAGACACCTGTCAGGATGGCTATGTCCTATACAAAGGTATTCCCTCCTTCCTATGCTAGCCCCTGGACGTAAGGCAATAAGCAGACAAGGTCCTCACCCTTGATGAGCCACCCCATCCAGTGAGGACACAATCATGGAGACAAGAAAATGCTTAATTATCAGTGAGGCCTGCTGGGTCTGTCCTGCAGACCCTGGCCTATGGATGAAATGAGTACTCAGACACAGGTATGCAGCATAAGAGCAGCTAGGTTACTGCCTGGCTCTAGTGGCCAGAGAGCAGCCCCGAGAAGCTGGAGCTGCTGGCTTTTATTCAGTGCAGGCATAATGCCAAAAACCTAGAGCCAACCTGCAGGTAATTAACATTTATTGTTCCCCTTTCAGGGAACCTCACAAGCACAGACGATCAAAGGTCAGTTCCTGGTCAACATAAGTAAACAAGCCTGTTTAAGATAAATTCTCCCACACTCCCTTGTACCTACTCCTTGCCCTCTGCCTCAGGGTTATAGAACAGCTATTCTCCCCTGGGGCTCTGCAGAACCTTCTGACCTTTCAGAAGGTTTGCATCCTTTCCCTATAGTTTTTCCCACCACTCTGACCGATCCCCCACAGAGGCCCAGGGGTGACACAGGGGAATAAGCCCTCAAATCTGCCTGGGAGATTCAGGGAAGGCTTCACAGAGGAGTTAGAATTTGANNNNNNNNNNNNNNN
|
pathogenic
| 339,757 |
Chromosome X, position 149490364, gene IDS: benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
GCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTGCAGAAACCAGCATGTTTTACTGGCTCCCAGGCGGTTCTGATGGAGGATGTCCCAGGAGGGGACTCTGAGATGGGCTATTTGTAATCTACGGCAACTGCCTCACAACAGAGTGTGTTCGTGGAGAAGAGGAAACTGGGCACCGAGGGCTCAGAAGCAGATGGCAGATAATCAGGAATATGTGAAAAATTATGGCACCTCCATATATAATAAAATATTACAGACATTTCTAAGGGAAAAGGTAGGCTTCTGAGAAATGACACAGAGATTGCCTATGACATTAAGTGTACAAAACCAGGGAACGTTAACAGTACACACAGAACAAGCAATCACATCTTGTGACATACATGTTACAAACATACACATGTATAACATATATCCCTGTGTGCATATGTGCACAACTGATGGCTGGCAGATGGATCCCTAATCCATTGTCATCTGTTAGCCCTGAGCAGGTGGGAGAAAAGGGCAGGATGTTCTGGCCCTGAATTACATGCTCTGTATCCTTTTTTCTTTTCATGATAAGCACATGTTATGATTTACTATTATCCTATTTCATATTTGATGATATGAAAATTATTTTCCTTTCTCTAAGTATAACAGTATTATGGTTATACTTCAAAAGAGGCAATATTTTTCAGAGACAGTGATCGGAAAATGGAACCATCTGGGATTTGCTTCGAAACAATTCAGAGATGGGGGAGTGGGTGAGGATGAGAGGAACAAGACTATGTGAGTGGGAAACGGGGGGAGCTGCTGTTTTATTCCCTGCTCTTGGAATGTTGAAGAATTTAAAAAATGCTTTTAAAAAGATAGTTTCATTTTTGGAAAAGTAGGAAACAGCCTTAGGGGGAGATAAAGACTTGAAAAGCCCAGGCTCTCGGCAGAGAAGACAGCGGGGATAGGGGTGGGAGGGCTGGAGCCAGGCGTGAAGAGCTTGCTGGGCTCTGCCAGGATTGTTCTGGATCCTCTCCACCCAAACTAAAAGTCCTCCAACCCTCCAGGTTAAAAATGGGGGTTACAAGAGCTCTGCCACACAAATGGAGGGTTCCTGCTGCATTCATCAAGAAAAAAAAAAAAGTTGCTGCAAGACCCTCCCCCACCCACCCACACCTATCCGTCAAGCATCTAAGACAGAGGTCTCAGGACTAACAAGCTGATCATAAAAATGCCCCAGGATCCCACTTTGTTTGTGAACCACTGGTTCACAAAAGAGAACACACCCATGTTTATGTCAATGGCAATTTTGCAAAGCATGTTTCACAGGAAAGTTCAGATGTTTTGACTCACCAGGGAATTTCAAAATGCTTACCATGATCCGAGGTAAATGCAATGATGGTGCTGTTGGCCAGCTGAAGATCGTCCAAAGCACTCAAGAGGCGGCCGACCTGTGTATCCAAATATGACACAGAGGCAAAGTAGCTCTGGCGGATTTTCCGCTGCAAATTGAAAAAAAATAAAAATGAGAGTGACTGCAATTTAAATTGCCAAGGCATACAGAGATAATGCTTGCCTGTGCATCTCTCCCAATCCCTACCCCTTAGTTGATGCCCTTAATGATTTTCTCAGCCAAAATGTAACACTCCTTTCCCTACCATCAGCATCACTTCACCCACAGAGTCACAGCAAAATCTGTAGGTCTACAAATAAGATACATTTCTAAGCAAATCAGATTTCACTTTAGGGCACAGATCACAGTGGATGAATGTGTCACCTACTGCTCTGTTGTTTTAAGCTGAAATGTATTGTCTCCTAGCTCTGGAGGCTAGAAGTCCAAGATCAAGGTGCTGGGAGGGCCATTCTCTCCCTGAAGGCTCTAAGTAGAAGAATCTTGCCTCTCCCTAGCTGGTGGTGGTGGCTGTCAGTCCCTGGCATTCCTCAGCTTGCAGCTGTATCACTGTGTCTCCATCTTCATGTGTTCTTCCCGTGTCTCTCTCCCCTCTTCTTAAAGGACACCGATCATATTGGATTAGGAGCCCACCTTACTCCAATATGACCTGATCTTAACTAATTACATCTGCAATAAACCTATTTCCAAATATGGTTACATTCAGCAGTACTGGGGGGTTAGGATGTCAACAGCCCTTTTCAGGGAAAAAAAAATTCATAATTTAACACATAACAGCAACCCTGACTGAGCCTTTCCCTCTGATCACTTGCTAACCCAACAGCAGATTACAACTGCATATCTTCATGAACTATGGCCGTTACGTGGAGCTCATTTCTAACAAACTGTCAGCAGGCAGGAGAAGAGCAAAGGAGATACCAGAGAGCAGCACGTCCTTCACAGTCCCTGAACCCAAGAGGCACTTTGGGAACAGCCAGATCATGCCCTGAAGTAAATGAGCCACCGGCCCCTCCTGGGCTGACTCTCATTCCCAACCTGGTTCACAAATGCTAAGGACAAAAATTAATCTTCCACCCCAAAGAGGGGTGAGAAGAGAGCCGTGTCTTCGCAGACCAGCCCCTGACTTATCAGCTGGACCCACCAGCTTCTTCTCATCACTGCCAGGGTGAGGACAATCATGAGACTCACCCGTTCTCACTTGCAGTCAAGAGAAAAGATATACATCTAGCCTTCCAGCAGGATTATGCTGAGCCCTGGCCTACTTATACTTTCTGGTAGATGAAGTCTTCAGTCTGAAACCTGTGGAACTTTGGTCCTCCTGGGGATGAAAGACACCTGTCAGGATGGCTATGTCCTATACAAAGGTATTCCCTCCTTCCTATGCTAGCCCCTGGACGTAAGGCAATAAGCAGACAAGGTCCTCACCCTTGATGAGCCACCCCATCCAGTGAGGACACAATCATGGAGACAAGAAAATGCTTAATTATCAGTGAGGCCTGCTGGGTCTGTCCTGCAGACCCTGGCCTATGGATGAAATGAGTACTCAGACACAGGTATGCAGCATAAGAGCAGCTAGGTTACTGCCTGGCTCTAGTGGCCAGAGAGCAGCCCCGAGAAGCTGGAGCTGCTGGCTTTTATTCAGTGCAGGCATAATGCCAAAAACCTAGAGCCAACCTGCAGGTAATTAACATTTATTGTTCCCCTTTCAGGGAACCTCACAAGCACAGACGATCAAAGGTCAGTTCCTGGTCAACATAAGTAAACAAGCCTGTTTAAGATAAATTCTCCCACACTCCCTTGTACCTACTCCTTGCCCTCTGCCTCAGGGTTATAGAACAGCTATTCTCCCCTGGGGCTCTGCAGAACCTTCTGACCTTTCAGAAGGTTTGCATCCTTTCCCTATAGTTTTTCCCACCACTCTGACCGATCCCCCACAGAGGCCCAGGGGTGACACAGGGGAATAAGCCCTCAAATCTGCCTGGGAGATTCAGGGAAGGCTTCACAGAGGAGTTAGAATTTGACAAGAAGCACCTGCAGTCAGACAAATGGGGCTCAGATGCTC
|
GCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTGCAGAAACCAGCATGTTTTACTGGCTCCCAGGCGGTTCTGATGGAGGATGTCCCAGGAGGGGACTCTGAGATGGGCTATTTGTAATCTACGGCAACTGCCTCACAACAGAGTGTGTTCGTGGAGAAGAGGAAACTGGGCACCGAGGGCTCAGAAGCAGATGGCAGATAATCAGGAATATGTGAAAAATTATGGCACCTCCATATATAATAAAATATTACAGACATTTCTAAGGGAAAAGGTAGGCTTCTGAGAAATGACACAGAGATTGCCTATGACATTAAGTGTACAAAACCAGGGAACGTTAACAGTACACACAGAACAAGCAATCACATCTTGTGACATACATGTTACAAACATACACATGTATAACATATATCCCTGTGTGCATATGTGCACAACTGATGGCTGGCAGATGGATCCCTAATCCATTGTCATCTGTTAGCCCTGAGCAGGTGGGAGAAAAGGGCAGGATGTTCTGGCCCTGAATTACATGCTCTGTATCCTTTTTTCTTTTCATGATAAGCACATGTTATGATTTACTATTATCCTATTTCATATTTGATGATATGAAAATTATTTTCCTTTCTCTAAGTATAACAGTATTATGGTTATACTTCAAAAGAGGCAATATTTTTCAGAGACAGTGATCGGAAAATGGAACCATCTGGGATTTGCTTCGAAACAATTCAGAGATGGGGGAGTGGGTGAGGATGAGAGGAACAAGACTATGTGAGTGGGAAACGGGGGGAGCTGCTGTTTTATTCCCTGCTCTTGGAATGTTGAAGAATTTAAAAAATGCTTTTAAAAAGATAGTTTCATTTTTGGAAAAGTAGGAAACAGCCTTAGGGGGAGATAAAGACTTGAAAAGCCCAGGCTCTCGGCAGAGAAGACAGCGGGGATAGGGGTGGGAGGGCTGGAGCCAGGCGTGAAGAGCTTGCTGGGCTCTGCCAGGATTGTTCTGGATCCTCTCCACCCAAACTAAAAGTCCTCCAACCCTCCAGGTTAAAAATGGGGGTTACAAGAGCTCTGCCACACAAATGGAGGGTTCCTGCTGCATTCATCAAGAAAAAAAAAAAAGTTGCTGCAAGACCCTCCCCCACCCACCCACACCTATCCGTCAAGCATCTAAGACAGAGGTCTCAGGACTAACAAGCTGATCATAAAAATGCCCCAGGATCCCACTTTGTTTGTGAACCACTGGTTCACAAAAGAGAACACACCCATGTTTATGTCAATGGCAATTTTGCAAAGCATGTTTCACAGGAAAGTTCAGATGTTTTGACTCACCAGGGAATTTCAAAATGCTTACCATGATCCGAGGTAAATGCAATGATGGTGCTGTTGGCCAGCTGAAGATCGTCAAAGCACTCAAGAGGCGGCCGACCTGTGTATCCAAATATGACACAGAGGCAAAGTAGCTCTGGCGGATTTTCCGCTGCAAATTGAAAAAAAATAAAAATGAGAGTGACTGCAATTTAAATTGCCAAGGCATACAGAGATAATGCTTGCCTGTGCATCTCTCCCAATCCCTACCCCTTAGTTGATGCCCTTAATGATTTTCTCAGCCAAAATGTAACACTCCTTTCCCTACCATCAGCATCACTTCACCCACAGAGTCACAGCAAAATCTGTAGGTCTACAAATAAGATACATTTCTAAGCAAATCAGATTTCACTTTAGGGCACAGATCACAGTGGATGAATGTGTCACCTACTGCTCTGTTGTTTTAAGCTGAAATGTATTGTCTCCTAGCTCTGGAGGCTAGAAGTCCAAGATCAAGGTGCTGGGAGGGCCATTCTCTCCCTGAAGGCTCTAAGTAGAAGAATCTTGCCTCTCCCTAGCTGGTGGTGGTGGCTGTCAGTCCCTGGCATTCCTCAGCTTGCAGCTGTATCACTGTGTCTCCATCTTCATGTGTTCTTCCCGTGTCTCTCTCCCCTCTTCTTAAAGGACACCGATCATATTGGATTAGGAGCCCACCTTACTCCAATATGACCTGATCTTAACTAATTACATCTGCAATAAACCTATTTCCAAATATGGTTACATTCAGCAGTACTGGGGGGTTAGGATGTCAACAGCCCTTTTCAGGGAAAAAAAAATTCATAATTTAACACATAACAGCAACCCTGACTGAGCCTTTCCCTCTGATCACTTGCTAACCCAACAGCAGATTACAACTGCATATCTTCATGAACTATGGCCGTTACGTGGAGCTCATTTCTAACAAACTGTCAGCAGGCAGGAGAAGAGCAAAGGAGATACCAGAGAGCAGCACGTCCTTCACAGTCCCTGAACCCAAGAGGCACTTTGGGAACAGCCAGATCATGCCCTGAAGTAAATGAGCCACCGGCCCCTCCTGGGCTGACTCTCATTCCCAACCTGGTTCACAAATGCTAAGGACAAAAATTAATCTTCCACCCCAAAGAGGGGTGAGAAGAGAGCCGTGTCTTCGCAGACCAGCCCCTGACTTATCAGCTGGACCCACCAGCTTCTTCTCATCACTGCCAGGGTGAGGACAATCATGAGACTCACCCGTTCTCACTTGCAGTCAAGAGAAAAGATATACATCTAGCCTTCCAGCAGGATTATGCTGAGCCCTGGCCTACTTATACTTTCTGGTAGATGAAGTCTTCAGTCTGAAACCTGTGGAACTTTGGTCCTCCTGGGGATGAAAGACACCTGTCAGGATGGCTATGTCCTATACAAAGGTATTCCCTCCTTCCTATGCTAGCCCCTGGACGTAAGGCAATAAGCAGACAAGGTCCTCACCCTTGATGAGCCACCCCATCCAGTGAGGACACAATCATGGAGACAAGAAAATGCTTAATTATCAGTGAGGCCTGCTGGGTCTGTCCTGCAGACCCTGGCCTATGGATGAAATGAGTACTCAGACACAGGTATGCAGCATAAGAGCAGCTAGGTTACTGCCTGGCTCTAGTGGCCAGAGAGCAGCCCCGAGAAGCTGGAGCTGCTGGCTTTTATTCAGTGCAGGCATAATGCCAAAAACCTAGAGCCAACCTGCAGGTAATTAACATTTATTGTTCCCCTTTCAGGGAACCTCACAAGCACAGACGATCAAAGGTCAGTTCCTGGTCAACATAAGTAAACAAGCCTGTTTAAGATAAATTCTCCCACACTCCCTTGTACCTACTCCTTGCCCTCTGCCTCAGGGTTATAGAACAGCTATTCTCCCCTGGGGCTCTGCAGAACCTTCTGACCTTTCAGAAGGTTTGCATCCTTTCCCTATAGTTTTTCCCACCACTCTGACCGATCCCCCACAGAGGCCCAGGGGTGACACAGGGGAATAAGCCCTCAAATCTGCCTGGGAGATTCAGGGAAGGCTTCACAGAGGAGTTAGAATTTGACAAGAAGCACCTGCAGTCAGACAAATGGGGCTCAGATGCTCN
|
pathogenic
| 339,759 |
The chromosome X, position 149490410 genetic variant in gene IDS: benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
AGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTGCAGAAACCAGCATGTTTTACTGGCTCCCAGGCGGTTCTGATGGAGGATGTCCCAGGAGGGGACTCTGAGATGGGCTATTTGTAATCTACGGCAACTGCCTCACAACAGAGTGTGTTCGTGGAGAAGAGGAAACTGGGCACCGAGGGCTCAGAAGCAGATGGCAGATAATCAGGAATATGTGAAAAATTATGGCACCTCCATATATAATAAAATATTACAGACATTTCTAAGGGAAAAGGTAGGCTTCTGAGAAATGACACAGAGATTGCCTATGACATTAAGTGTACAAAACCAGGGAACGTTAACAGTACACACAGAACAAGCAATCACATCTTGTGACATACATGTTACAAACATACACATGTATAACATATATCCCTGTGTGCATATGTGCACAACTGATGGCTGGCAGATGGATCCCTAATCCATTGTCATCTGTTAGCCCTGAGCAGGTGGGAGAAAAGGGCAGGATGTTCTGGCCCTGAATTACATGCTCTGTATCCTTTTTTCTTTTCATGATAAGCACATGTTATGATTTACTATTATCCTATTTCATATTTGATGATATGAAAATTATTTTCCTTTCTCTAAGTATAACAGTATTATGGTTATACTTCAAAAGAGGCAATATTTTTCAGAGACAGTGATCGGAAAATGGAACCATCTGGGATTTGCTTCGAAACAATTCAGAGATGGGGGAGTGGGTGAGGATGAGAGGAACAAGACTATGTGAGTGGGAAACGGGGGGAGCTGCTGTTTTATTCCCTGCTCTTGGAATGTTGAAGAATTTAAAAAATGCTTTTAAAAAGATAGTTTCATTTTTGGAAAAGTAGGAAACAGCCTTAGGGGGAGATAAAGACTTGAAAAGCCCAGGCTCTCGGCAGAGAAGACAGCGGGGATAGGGGTGGGAGGGCTGGAGCCAGGCGTGAAGAGCTTGCTGGGCTCTGCCAGGATTGTTCTGGATCCTCTCCACCCAAACTAAAAGTCCTCCAACCCTCCAGGTTAAAAATGGGGGTTACAAGAGCTCTGCCACACAAATGGAGGGTTCCTGCTGCATTCATCAAGAAAAAAAAAAAAGTTGCTGCAAGACCCTCCCCCACCCACCCACACCTATCCGTCAAGCATCTAAGACAGAGGTCTCAGGACTAACAAGCTGATCATAAAAATGCCCCAGGATCCCACTTTGTTTGTGAACCACTGGTTCACAAAAGAGAACACACCCATGTTTATGTCAATGGCAATTTTGCAAAGCATGTTTCACAGGAAAGTTCAGATGTTTTGACTCACCAGGGAATTTCAAAATGCTTACCATGATCCGAGGTAAATGCAATGATGGTGCTGTTGGCCAGCTGAAGATCGTCCAAAGCACTCAAGAGGCGGCCGACCTGTGTATCCAAATATGACACAGAGGCAAAGTAGCTCTGGCGGATTTTCCGCTGCAAATTGAAAAAAAATAAAAATGAGAGTGACTGCAATTTAAATTGCCAAGGCATACAGAGATAATGCTTGCCTGTGCATCTCTCCCAATCCCTACCCCTTAGTTGATGCCCTTAATGATTTTCTCAGCCAAAATGTAACACTCCTTTCCCTACCATCAGCATCACTTCACCCACAGAGTCACAGCAAAATCTGTAGGTCTACAAATAAGATACATTTCTAAGCAAATCAGATTTCACTTTAGGGCACAGATCACAGTGGATGAATGTGTCACCTACTGCTCTGTTGTTTTAAGCTGAAATGTATTGTCTCCTAGCTCTGGAGGCTAGAAGTCCAAGATCAAGGTGCTGGGAGGGCCATTCTCTCCCTGAAGGCTCTAAGTAGAAGAATCTTGCCTCTCCCTAGCTGGTGGTGGTGGCTGTCAGTCCCTGGCATTCCTCAGCTTGCAGCTGTATCACTGTGTCTCCATCTTCATGTGTTCTTCCCGTGTCTCTCTCCCCTCTTCTTAAAGGACACCGATCATATTGGATTAGGAGCCCACCTTACTCCAATATGACCTGATCTTAACTAATTACATCTGCAATAAACCTATTTCCAAATATGGTTACATTCAGCAGTACTGGGGGGTTAGGATGTCAACAGCCCTTTTCAGGGAAAAAAAAATTCATAATTTAACACATAACAGCAACCCTGACTGAGCCTTTCCCTCTGATCACTTGCTAACCCAACAGCAGATTACAACTGCATATCTTCATGAACTATGGCCGTTACGTGGAGCTCATTTCTAACAAACTGTCAGCAGGCAGGAGAAGAGCAAAGGAGATACCAGAGAGCAGCACGTCCTTCACAGTCCCTGAACCCAAGAGGCACTTTGGGAACAGCCAGATCATGCCCTGAAGTAAATGAGCCACCGGCCCCTCCTGGGCTGACTCTCATTCCCAACCTGGTTCACAAATGCTAAGGACAAAAATTAATCTTCCACCCCAAAGAGGGGTGAGAAGAGAGCCGTGTCTTCGCAGACCAGCCCCTGACTTATCAGCTGGACCCACCAGCTTCTTCTCATCACTGCCAGGGTGAGGACAATCATGAGACTCACCCGTTCTCACTTGCAGTCAAGAGAAAAGATATACATCTAGCCTTCCAGCAGGATTATGCTGAGCCCTGGCCTACTTATACTTTCTGGTAGATGAAGTCTTCAGTCTGAAACCTGTGGAACTTTGGTCCTCCTGGGGATGAAAGACACCTGTCAGGATGGCTATGTCCTATACAAAGGTATTCCCTCCTTCCTATGCTAGCCCCTGGACGTAAGGCAATAAGCAGACAAGGTCCTCACCCTTGATGAGCCACCCCATCCAGTGAGGACACAATCATGGAGACAAGAAAATGCTTAATTATCAGTGAGGCCTGCTGGGTCTGTCCTGCAGACCCTGGCCTATGGATGAAATGAGTACTCAGACACAGGTATGCAGCATAAGAGCAGCTAGGTTACTGCCTGGCTCTAGTGGCCAGAGAGCAGCCCCGAGAAGCTGGAGCTGCTGGCTTTTATTCAGTGCAGGCATAATGCCAAAAACCTAGAGCCAACCTGCAGGTAATTAACATTTATTGTTCCCCTTTCAGGGAACCTCACAAGCACAGACGATCAAAGGTCAGTTCCTGGTCAACATAAGTAAACAAGCCTGTTTAAGATAAATTCTCCCACACTCCCTTGTACCTACTCCTTGCCCTCTGCCTCAGGGTTATAGAACAGCTATTCTCCCCTGGGGCTCTGCAGAACCTTCTGACCTTTCAGAAGGTTTGCATCCTTTCCCTATAGTTTTTCCCACCACTCTGACCGATCCCCCACAGAGGCCCAGGGGTGACACAGGGGAATAAGCCCTCAAATCTGCCTGGGAGATTCAGGGAAGGCTTCACAGAGGAGTTAGAATTTGACAAGAAGCACCTGCAGTCAGACAAATGGGGCTCAGATGCTCCAAGCAGGGGCTGCAGGGCACGGAACAGTGTGGAGTTGTGACAGAG
|
AGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTGCAGAAACCAGCATGTTTTACTGGCTCCCAGGCGGTTCTGATGGAGGATGTCCCAGGAGGGGACTCTGAGATGGGCTATTTGTAATCTACGGCAACTGCCTCACAACAGAGTGTGTTCGTGGAGAAGAGGAAACTGGGCACCGAGGGCTCAGAAGCAGATGGCAGATAATCAGGAATATGTGAAAAATTATGGCACCTCCATATATAATAAAATATTACAGACATTTCTAAGGGAAAAGGTAGGCTTCTGAGAAATGACACAGAGATTGCCTATGACATTAAGTGTACAAAACCAGGGAACGTTAACAGTACACACAGAACAAGCAATCACATCTTGTGACATACATGTTACAAACATACACATGTATAACATATATCCCTGTGTGCATATGTGCACAACTGATGGCTGGCAGATGGATCCCTAATCCATTGTCATCTGTTAGCCCTGAGCAGGTGGGAGAAAAGGGCAGGATGTTCTGGCCCTGAATTACATGCTCTGTATCCTTTTTTCTTTTCATGATAAGCACATGTTATGATTTACTATTATCCTATTTCATATTTGATGATATGAAAATTATTTTCCTTTCTCTAAGTATAACAGTATTATGGTTATACTTCAAAAGAGGCAATATTTTTCAGAGACAGTGATCGGAAAATGGAACCATCTGGGATTTGCTTCGAAACAATTCAGAGATGGGGGAGTGGGTGAGGATGAGAGGAACAAGACTATGTGAGTGGGAAACGGGGGGAGCTGCTGTTTTATTCCCTGCTCTTGGAATGTTGAAGAATTTAAAAAATGCTTTTAAAAAGATAGTTTCATTTTTGGAAAAGTAGGAAACAGCCTTAGGGGGAGATAAAGACTTGAAAAGCCCAGGCTCTCGGCAGAGAAGACAGCGGGGATAGGGGTGGGAGGGCTGGAGCCAGGCGTGAAGAGCTTGCTGGGCTCTGCCAGGATTGTTCTGGATCCTCTCCACCCAAACTAAAAGTCCTCCAACCCTCCAGGTTAAAAATGGGGGTTACAAGAGCTCTGCCACACAAATGGAGGGTTCCTGCTGCATTCATCAAGAAAAAAAAAAAAGTTGCTGCAAGACCCTCCCCCACCCACCCACACCTATCCGTCAAGCATCTAAGACAGAGGTCTCAGGACTAACAAGCTGATCATAAAAATGCCCCAGGATCCCACTTTGTTTGTGAACCACTGGTTCACAAAAGAGAACACACCCATGTTTATGTCAATGGCAATTTTGCAAAGCATGTTTCACAGGAAAGTTCAGATGTTTTGACTCACCAGGGAATTTCAAAATGCTTACCATGATCCGAGGTAAATGCAATGATGGTGCTGTTGGCCAGCTGAAGATCGTCCAAAGCACTCAAGAGGCGGCCGACCTGTGTATCCAAATATGACACAGGCAAAGTAGCTCTGGCGGATTTTCCGCTGCAAATTGAAAAAAAATAAAAATGAGAGTGACTGCAATTTAAATTGCCAAGGCATACAGAGATAATGCTTGCCTGTGCATCTCTCCCAATCCCTACCCCTTAGTTGATGCCCTTAATGATTTTCTCAGCCAAAATGTAACACTCCTTTCCCTACCATCAGCATCACTTCACCCACAGAGTCACAGCAAAATCTGTAGGTCTACAAATAAGATACATTTCTAAGCAAATCAGATTTCACTTTAGGGCACAGATCACAGTGGATGAATGTGTCACCTACTGCTCTGTTGTTTTAAGCTGAAATGTATTGTCTCCTAGCTCTGGAGGCTAGAAGTCCAAGATCAAGGTGCTGGGAGGGCCATTCTCTCCCTGAAGGCTCTAAGTAGAAGAATCTTGCCTCTCCCTAGCTGGTGGTGGTGGCTGTCAGTCCCTGGCATTCCTCAGCTTGCAGCTGTATCACTGTGTCTCCATCTTCATGTGTTCTTCCCGTGTCTCTCTCCCCTCTTCTTAAAGGACACCGATCATATTGGATTAGGAGCCCACCTTACTCCAATATGACCTGATCTTAACTAATTACATCTGCAATAAACCTATTTCCAAATATGGTTACATTCAGCAGTACTGGGGGGTTAGGATGTCAACAGCCCTTTTCAGGGAAAAAAAAATTCATAATTTAACACATAACAGCAACCCTGACTGAGCCTTTCCCTCTGATCACTTGCTAACCCAACAGCAGATTACAACTGCATATCTTCATGAACTATGGCCGTTACGTGGAGCTCATTTCTAACAAACTGTCAGCAGGCAGGAGAAGAGCAAAGGAGATACCAGAGAGCAGCACGTCCTTCACAGTCCCTGAACCCAAGAGGCACTTTGGGAACAGCCAGATCATGCCCTGAAGTAAATGAGCCACCGGCCCCTCCTGGGCTGACTCTCATTCCCAACCTGGTTCACAAATGCTAAGGACAAAAATTAATCTTCCACCCCAAAGAGGGGTGAGAAGAGAGCCGTGTCTTCGCAGACCAGCCCCTGACTTATCAGCTGGACCCACCAGCTTCTTCTCATCACTGCCAGGGTGAGGACAATCATGAGACTCACCCGTTCTCACTTGCAGTCAAGAGAAAAGATATACATCTAGCCTTCCAGCAGGATTATGCTGAGCCCTGGCCTACTTATACTTTCTGGTAGATGAAGTCTTCAGTCTGAAACCTGTGGAACTTTGGTCCTCCTGGGGATGAAAGACACCTGTCAGGATGGCTATGTCCTATACAAAGGTATTCCCTCCTTCCTATGCTAGCCCCTGGACGTAAGGCAATAAGCAGACAAGGTCCTCACCCTTGATGAGCCACCCCATCCAGTGAGGACACAATCATGGAGACAAGAAAATGCTTAATTATCAGTGAGGCCTGCTGGGTCTGTCCTGCAGACCCTGGCCTATGGATGAAATGAGTACTCAGACACAGGTATGCAGCATAAGAGCAGCTAGGTTACTGCCTGGCTCTAGTGGCCAGAGAGCAGCCCCGAGAAGCTGGAGCTGCTGGCTTTTATTCAGTGCAGGCATAATGCCAAAAACCTAGAGCCAACCTGCAGGTAATTAACATTTATTGTTCCCCTTTCAGGGAACCTCACAAGCACAGACGATCAAAGGTCAGTTCCTGGTCAACATAAGTAAACAAGCCTGTTTAAGATAAATTCTCCCACACTCCCTTGTACCTACTCCTTGCCCTCTGCCTCAGGGTTATAGAACAGCTATTCTCCCCTGGGGCTCTGCAGAACCTTCTGACCTTTCAGAAGGTTTGCATCCTTTCCCTATAGTTTTTCCCACCACTCTGACCGATCCCCCACAGAGGCCCAGGGGTGACACAGGGGAATAAGCCCTCAAATCTGCCTGGGAGATTCAGGGAAGGCTTCACAGAGGAGTTAGAATTTGACAAGAAGCACCTGCAGTCAGACAAATGGGGCTCAGATGCTCCAAGCAGGGGCTGCAGGGCACGGAACAGTGTGGAGTTGTGACAGAGNN
|
pathogenic
| 339,766 |
Determine whether the variant at chromosome X, position 149490424, in gene IDS is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
CCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTGCAGAAACCAGCATGTTTTACTGGCTCCCAGGCGGTTCTGATGGAGGATGTCCCAGGAGGGGACTCTGAGATGGGCTATTTGTAATCTACGGCAACTGCCTCACAACAGAGTGTGTTCGTGGAGAAGAGGAAACTGGGCACCGAGGGCTCAGAAGCAGATGGCAGATAATCAGGAATATGTGAAAAATTATGGCACCTCCATATATAATAAAATATTACAGACATTTCTAAGGGAAAAGGTAGGCTTCTGAGAAATGACACAGAGATTGCCTATGACATTAAGTGTACAAAACCAGGGAACGTTAACAGTACACACAGAACAAGCAATCACATCTTGTGACATACATGTTACAAACATACACATGTATAACATATATCCCTGTGTGCATATGTGCACAACTGATGGCTGGCAGATGGATCCCTAATCCATTGTCATCTGTTAGCCCTGAGCAGGTGGGAGAAAAGGGCAGGATGTTCTGGCCCTGAATTACATGCTCTGTATCCTTTTTTCTTTTCATGATAAGCACATGTTATGATTTACTATTATCCTATTTCATATTTGATGATATGAAAATTATTTTCCTTTCTCTAAGTATAACAGTATTATGGTTATACTTCAAAAGAGGCAATATTTTTCAGAGACAGTGATCGGAAAATGGAACCATCTGGGATTTGCTTCGAAACAATTCAGAGATGGGGGAGTGGGTGAGGATGAGAGGAACAAGACTATGTGAGTGGGAAACGGGGGGAGCTGCTGTTTTATTCCCTGCTCTTGGAATGTTGAAGAATTTAAAAAATGCTTTTAAAAAGATAGTTTCATTTTTGGAAAAGTAGGAAACAGCCTTAGGGGGAGATAAAGACTTGAAAAGCCCAGGCTCTCGGCAGAGAAGACAGCGGGGATAGGGGTGGGAGGGCTGGAGCCAGGCGTGAAGAGCTTGCTGGGCTCTGCCAGGATTGTTCTGGATCCTCTCCACCCAAACTAAAAGTCCTCCAACCCTCCAGGTTAAAAATGGGGGTTACAAGAGCTCTGCCACACAAATGGAGGGTTCCTGCTGCATTCATCAAGAAAAAAAAAAAAGTTGCTGCAAGACCCTCCCCCACCCACCCACACCTATCCGTCAAGCATCTAAGACAGAGGTCTCAGGACTAACAAGCTGATCATAAAAATGCCCCAGGATCCCACTTTGTTTGTGAACCACTGGTTCACAAAAGAGAACACACCCATGTTTATGTCAATGGCAATTTTGCAAAGCATGTTTCACAGGAAAGTTCAGATGTTTTGACTCACCAGGGAATTTCAAAATGCTTACCATGATCCGAGGTAAATGCAATGATGGTGCTGTTGGCCAGCTGAAGATCGTCCAAAGCACTCAAGAGGCGGCCGACCTGTGTATCCAAATATGACACAGAGGCAAAGTAGCTCTGGCGGATTTTCCGCTGCAAATTGAAAAAAAATAAAAATGAGAGTGACTGCAATTTAAATTGCCAAGGCATACAGAGATAATGCTTGCCTGTGCATCTCTCCCAATCCCTACCCCTTAGTTGATGCCCTTAATGATTTTCTCAGCCAAAATGTAACACTCCTTTCCCTACCATCAGCATCACTTCACCCACAGAGTCACAGCAAAATCTGTAGGTCTACAAATAAGATACATTTCTAAGCAAATCAGATTTCACTTTAGGGCACAGATCACAGTGGATGAATGTGTCACCTACTGCTCTGTTGTTTTAAGCTGAAATGTATTGTCTCCTAGCTCTGGAGGCTAGAAGTCCAAGATCAAGGTGCTGGGAGGGCCATTCTCTCCCTGAAGGCTCTAAGTAGAAGAATCTTGCCTCTCCCTAGCTGGTGGTGGTGGCTGTCAGTCCCTGGCATTCCTCAGCTTGCAGCTGTATCACTGTGTCTCCATCTTCATGTGTTCTTCCCGTGTCTCTCTCCCCTCTTCTTAAAGGACACCGATCATATTGGATTAGGAGCCCACCTTACTCCAATATGACCTGATCTTAACTAATTACATCTGCAATAAACCTATTTCCAAATATGGTTACATTCAGCAGTACTGGGGGGTTAGGATGTCAACAGCCCTTTTCAGGGAAAAAAAAATTCATAATTTAACACATAACAGCAACCCTGACTGAGCCTTTCCCTCTGATCACTTGCTAACCCAACAGCAGATTACAACTGCATATCTTCATGAACTATGGCCGTTACGTGGAGCTCATTTCTAACAAACTGTCAGCAGGCAGGAGAAGAGCAAAGGAGATACCAGAGAGCAGCACGTCCTTCACAGTCCCTGAACCCAAGAGGCACTTTGGGAACAGCCAGATCATGCCCTGAAGTAAATGAGCCACCGGCCCCTCCTGGGCTGACTCTCATTCCCAACCTGGTTCACAAATGCTAAGGACAAAAATTAATCTTCCACCCCAAAGAGGGGTGAGAAGAGAGCCGTGTCTTCGCAGACCAGCCCCTGACTTATCAGCTGGACCCACCAGCTTCTTCTCATCACTGCCAGGGTGAGGACAATCATGAGACTCACCCGTTCTCACTTGCAGTCAAGAGAAAAGATATACATCTAGCCTTCCAGCAGGATTATGCTGAGCCCTGGCCTACTTATACTTTCTGGTAGATGAAGTCTTCAGTCTGAAACCTGTGGAACTTTGGTCCTCCTGGGGATGAAAGACACCTGTCAGGATGGCTATGTCCTATACAAAGGTATTCCCTCCTTCCTATGCTAGCCCCTGGACGTAAGGCAATAAGCAGACAAGGTCCTCACCCTTGATGAGCCACCCCATCCAGTGAGGACACAATCATGGAGACAAGAAAATGCTTAATTATCAGTGAGGCCTGCTGGGTCTGTCCTGCAGACCCTGGCCTATGGATGAAATGAGTACTCAGACACAGGTATGCAGCATAAGAGCAGCTAGGTTACTGCCTGGCTCTAGTGGCCAGAGAGCAGCCCCGAGAAGCTGGAGCTGCTGGCTTTTATTCAGTGCAGGCATAATGCCAAAAACCTAGAGCCAACCTGCAGGTAATTAACATTTATTGTTCCCCTTTCAGGGAACCTCACAAGCACAGACGATCAAAGGTCAGTTCCTGGTCAACATAAGTAAACAAGCCTGTTTAAGATAAATTCTCCCACACTCCCTTGTACCTACTCCTTGCCCTCTGCCTCAGGGTTATAGAACAGCTATTCTCCCCTGGGGCTCTGCAGAACCTTCTGACCTTTCAGAAGGTTTGCATCCTTTCCCTATAGTTTTTCCCACCACTCTGACCGATCCCCCACAGAGGCCCAGGGGTGACACAGGGGAATAAGCCCTCAAATCTGCCTGGGAGATTCAGGGAAGGCTTCACAGAGGAGTTAGAATTTGACAAGAAGCACCTGCAGTCAGACAAATGGGGCTCAGATGCTCCAAGCAGGGGCTGCAGGGCACGGAACAGTGTGGAGTTGTGACAGAGCAGGTTGCATTTGG
|
CCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTGCAGAAACCAGCATGTTTTACTGGCTCCCAGGCGGTTCTGATGGAGGATGTCCCAGGAGGGGACTCTGAGATGGGCTATTTGTAATCTACGGCAACTGCCTCACAACAGAGTGTGTTCGTGGAGAAGAGGAAACTGGGCACCGAGGGCTCAGAAGCAGATGGCAGATAATCAGGAATATGTGAAAAATTATGGCACCTCCATATATAATAAAATATTACAGACATTTCTAAGGGAAAAGGTAGGCTTCTGAGAAATGACACAGAGATTGCCTATGACATTAAGTGTACAAAACCAGGGAACGTTAACAGTACACACAGAACAAGCAATCACATCTTGTGACATACATGTTACAAACATACACATGTATAACATATATCCCTGTGTGCATATGTGCACAACTGATGGCTGGCAGATGGATCCCTAATCCATTGTCATCTGTTAGCCCTGAGCAGGTGGGAGAAAAGGGCAGGATGTTCTGGCCCTGAATTACATGCTCTGTATCCTTTTTTCTTTTCATGATAAGCACATGTTATGATTTACTATTATCCTATTTCATATTTGATGATATGAAAATTATTTTCCTTTCTCTAAGTATAACAGTATTATGGTTATACTTCAAAAGAGGCAATATTTTTCAGAGACAGTGATCGGAAAATGGAACCATCTGGGATTTGCTTCGAAACAATTCAGAGATGGGGGAGTGGGTGAGGATGAGAGGAACAAGACTATGTGAGTGGGAAACGGGGGGAGCTGCTGTTTTATTCCCTGCTCTTGGAATGTTGAAGAATTTAAAAAATGCTTTTAAAAAGATAGTTTCATTTTTGGAAAAGTAGGAAACAGCCTTAGGGGGAGATAAAGACTTGAAAAGCCCAGGCTCTCGGCAGAGAAGACAGCGGGGATAGGGGTGGGAGGGCTGGAGCCAGGCGTGAAGAGCTTGCTGGGCTCTGCCAGGATTGTTCTGGATCCTCTCCACCCAAACTAAAAGTCCTCCAACCCTCCAGGTTAAAAATGGGGGTTACAAGAGCTCTGCCACACAAATGGAGGGTTCCTGCTGCATTCATCAAGAAAAAAAAAAAAGTTGCTGCAAGACCCTCCCCCACCCACCCACACCTATCCGTCAAGCATCTAAGACAGAGGTCTCAGGACTAACAAGCTGATCATAAAAATGCCCCAGGATCCCACTTTGTTTGTGAACCACTGGTTCACAAAAGAGAACACACCCATGTTTATGTCAATGGCAATTTTGCAAAGCATGTTTCACAGGAAAGTTCAGATGTTTTGACTCACCAGGGAATTTCAAAATGCTTACCATGATCCGAGGTAAATGCAATGATGGTGCTGTTGGCCAGCTGAAGATCGTCCAAAGCACTCAAGAGGCGGCCGACCTGTGTATCCAAATATGACACAGAGGCAAAGTAGCTTCTGGCGGATTTTCCGCTGCAAATTGAAAAAAAATAAAAATGAGAGTGACTGCAATTTAAATTGCCAAGGCATACAGAGATAATGCTTGCCTGTGCATCTCTCCCAATCCCTACCCCTTAGTTGATGCCCTTAATGATTTTCTCAGCCAAAATGTAACACTCCTTTCCCTACCATCAGCATCACTTCACCCACAGAGTCACAGCAAAATCTGTAGGTCTACAAATAAGATACATTTCTAAGCAAATCAGATTTCACTTTAGGGCACAGATCACAGTGGATGAATGTGTCACCTACTGCTCTGTTGTTTTAAGCTGAAATGTATTGTCTCCTAGCTCTGGAGGCTAGAAGTCCAAGATCAAGGTGCTGGGAGGGCCATTCTCTCCCTGAAGGCTCTAAGTAGAAGAATCTTGCCTCTCCCTAGCTGGTGGTGGTGGCTGTCAGTCCCTGGCATTCCTCAGCTTGCAGCTGTATCACTGTGTCTCCATCTTCATGTGTTCTTCCCGTGTCTCTCTCCCCTCTTCTTAAAGGACACCGATCATATTGGATTAGGAGCCCACCTTACTCCAATATGACCTGATCTTAACTAATTACATCTGCAATAAACCTATTTCCAAATATGGTTACATTCAGCAGTACTGGGGGGTTAGGATGTCAACAGCCCTTTTCAGGGAAAAAAAAATTCATAATTTAACACATAACAGCAACCCTGACTGAGCCTTTCCCTCTGATCACTTGCTAACCCAACAGCAGATTACAACTGCATATCTTCATGAACTATGGCCGTTACGTGGAGCTCATTTCTAACAAACTGTCAGCAGGCAGGAGAAGAGCAAAGGAGATACCAGAGAGCAGCACGTCCTTCACAGTCCCTGAACCCAAGAGGCACTTTGGGAACAGCCAGATCATGCCCTGAAGTAAATGAGCCACCGGCCCCTCCTGGGCTGACTCTCATTCCCAACCTGGTTCACAAATGCTAAGGACAAAAATTAATCTTCCACCCCAAAGAGGGGTGAGAAGAGAGCCGTGTCTTCGCAGACCAGCCCCTGACTTATCAGCTGGACCCACCAGCTTCTTCTCATCACTGCCAGGGTGAGGACAATCATGAGACTCACCCGTTCTCACTTGCAGTCAAGAGAAAAGATATACATCTAGCCTTCCAGCAGGATTATGCTGAGCCCTGGCCTACTTATACTTTCTGGTAGATGAAGTCTTCAGTCTGAAACCTGTGGAACTTTGGTCCTCCTGGGGATGAAAGACACCTGTCAGGATGGCTATGTCCTATACAAAGGTATTCCCTCCTTCCTATGCTAGCCCCTGGACGTAAGGCAATAAGCAGACAAGGTCCTCACCCTTGATGAGCCACCCCATCCAGTGAGGACACAATCATGGAGACAAGAAAATGCTTAATTATCAGTGAGGCCTGCTGGGTCTGTCCTGCAGACCCTGGCCTATGGATGAAATGAGTACTCAGACACAGGTATGCAGCATAAGAGCAGCTAGGTTACTGCCTGGCTCTAGTGGCCAGAGAGCAGCCCCGAGAAGCTGGAGCTGCTGGCTTTTATTCAGTGCAGGCATAATGCCAAAAACCTAGAGCCAACCTGCAGGTAATTAACATTTATTGTTCCCCTTTCAGGGAACCTCACAAGCACAGACGATCAAAGGTCAGTTCCTGGTCAACATAAGTAAACAAGCCTGTTTAAGATAAATTCTCCCACACTCCCTTGTACCTACTCCTTGCCCTCTGCCTCAGGGTTATAGAACAGCTATTCTCCCCTGGGGCTCTGCAGAACCTTCTGACCTTTCAGAAGGTTTGCATCCTTTCCCTATAGTTTTTCCCACCACTCTGACCGATCCCCCACAGAGGCCCAGGGGTGACACAGGGGAATAAGCCCTCAAATCTGCCTGGGAGATTCAGGGAAGGCTTCACAGAGGAGTTAGAATTTGACAAGAAGCACCTGCAGTCAGACAAATGGGGCTCAGATGCTCCAAGCAGGGGCTGCAGGGCACGGAACAGTGTGGAGTTGTGACAGAGCAGGTTGCATTTG
|
pathogenic
| 339,768 |
Determine if the mutation at chromosome X, position 149490433 in gene IDS is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
ATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTGCAGAAACCAGCATGTTTTACTGGCTCCCAGGCGGTTCTGATGGAGGATGTCCCAGGAGGGGACTCTGAGATGGGCTATTTGTAATCTACGGCAACTGCCTCACAACAGAGTGTGTTCGTGGAGAAGAGGAAACTGGGCACCGAGGGCTCAGAAGCAGATGGCAGATAATCAGGAATATGTGAAAAATTATGGCACCTCCATATATAATAAAATATTACAGACATTTCTAAGGGAAAAGGTAGGCTTCTGAGAAATGACACAGAGATTGCCTATGACATTAAGTGTACAAAACCAGGGAACGTTAACAGTACACACAGAACAAGCAATCACATCTTGTGACATACATGTTACAAACATACACATGTATAACATATATCCCTGTGTGCATATGTGCACAACTGATGGCTGGCAGATGGATCCCTAATCCATTGTCATCTGTTAGCCCTGAGCAGGTGGGAGAAAAGGGCAGGATGTTCTGGCCCTGAATTACATGCTCTGTATCCTTTTTTCTTTTCATGATAAGCACATGTTATGATTTACTATTATCCTATTTCATATTTGATGATATGAAAATTATTTTCCTTTCTCTAAGTATAACAGTATTATGGTTATACTTCAAAAGAGGCAATATTTTTCAGAGACAGTGATCGGAAAATGGAACCATCTGGGATTTGCTTCGAAACAATTCAGAGATGGGGGAGTGGGTGAGGATGAGAGGAACAAGACTATGTGAGTGGGAAACGGGGGGAGCTGCTGTTTTATTCCCTGCTCTTGGAATGTTGAAGAATTTAAAAAATGCTTTTAAAAAGATAGTTTCATTTTTGGAAAAGTAGGAAACAGCCTTAGGGGGAGATAAAGACTTGAAAAGCCCAGGCTCTCGGCAGAGAAGACAGCGGGGATAGGGGTGGGAGGGCTGGAGCCAGGCGTGAAGAGCTTGCTGGGCTCTGCCAGGATTGTTCTGGATCCTCTCCACCCAAACTAAAAGTCCTCCAACCCTCCAGGTTAAAAATGGGGGTTACAAGAGCTCTGCCACACAAATGGAGGGTTCCTGCTGCATTCATCAAGAAAAAAAAAAAAGTTGCTGCAAGACCCTCCCCCACCCACCCACACCTATCCGTCAAGCATCTAAGACAGAGGTCTCAGGACTAACAAGCTGATCATAAAAATGCCCCAGGATCCCACTTTGTTTGTGAACCACTGGTTCACAAAAGAGAACACACCCATGTTTATGTCAATGGCAATTTTGCAAAGCATGTTTCACAGGAAAGTTCAGATGTTTTGACTCACCAGGGAATTTCAAAATGCTTACCATGATCCGAGGTAAATGCAATGATGGTGCTGTTGGCCAGCTGAAGATCGTCCAAAGCACTCAAGAGGCGGCCGACCTGTGTATCCAAATATGACACAGAGGCAAAGTAGCTCTGGCGGATTTTCCGCTGCAAATTGAAAAAAAATAAAAATGAGAGTGACTGCAATTTAAATTGCCAAGGCATACAGAGATAATGCTTGCCTGTGCATCTCTCCCAATCCCTACCCCTTAGTTGATGCCCTTAATGATTTTCTCAGCCAAAATGTAACACTCCTTTCCCTACCATCAGCATCACTTCACCCACAGAGTCACAGCAAAATCTGTAGGTCTACAAATAAGATACATTTCTAAGCAAATCAGATTTCACTTTAGGGCACAGATCACAGTGGATGAATGTGTCACCTACTGCTCTGTTGTTTTAAGCTGAAATGTATTGTCTCCTAGCTCTGGAGGCTAGAAGTCCAAGATCAAGGTGCTGGGAGGGCCATTCTCTCCCTGAAGGCTCTAAGTAGAAGAATCTTGCCTCTCCCTAGCTGGTGGTGGTGGCTGTCAGTCCCTGGCATTCCTCAGCTTGCAGCTGTATCACTGTGTCTCCATCTTCATGTGTTCTTCCCGTGTCTCTCTCCCCTCTTCTTAAAGGACACCGATCATATTGGATTAGGAGCCCACCTTACTCCAATATGACCTGATCTTAACTAATTACATCTGCAATAAACCTATTTCCAAATATGGTTACATTCAGCAGTACTGGGGGGTTAGGATGTCAACAGCCCTTTTCAGGGAAAAAAAAATTCATAATTTAACACATAACAGCAACCCTGACTGAGCCTTTCCCTCTGATCACTTGCTAACCCAACAGCAGATTACAACTGCATATCTTCATGAACTATGGCCGTTACGTGGAGCTCATTTCTAACAAACTGTCAGCAGGCAGGAGAAGAGCAAAGGAGATACCAGAGAGCAGCACGTCCTTCACAGTCCCTGAACCCAAGAGGCACTTTGGGAACAGCCAGATCATGCCCTGAAGTAAATGAGCCACCGGCCCCTCCTGGGCTGACTCTCATTCCCAACCTGGTTCACAAATGCTAAGGACAAAAATTAATCTTCCACCCCAAAGAGGGGTGAGAAGAGAGCCGTGTCTTCGCAGACCAGCCCCTGACTTATCAGCTGGACCCACCAGCTTCTTCTCATCACTGCCAGGGTGAGGACAATCATGAGACTCACCCGTTCTCACTTGCAGTCAAGAGAAAAGATATACATCTAGCCTTCCAGCAGGATTATGCTGAGCCCTGGCCTACTTATACTTTCTGGTAGATGAAGTCTTCAGTCTGAAACCTGTGGAACTTTGGTCCTCCTGGGGATGAAAGACACCTGTCAGGATGGCTATGTCCTATACAAAGGTATTCCCTCCTTCCTATGCTAGCCCCTGGACGTAAGGCAATAAGCAGACAAGGTCCTCACCCTTGATGAGCCACCCCATCCAGTGAGGACACAATCATGGAGACAAGAAAATGCTTAATTATCAGTGAGGCCTGCTGGGTCTGTCCTGCAGACCCTGGCCTATGGATGAAATGAGTACTCAGACACAGGTATGCAGCATAAGAGCAGCTAGGTTACTGCCTGGCTCTAGTGGCCAGAGAGCAGCCCCGAGAAGCTGGAGCTGCTGGCTTTTATTCAGTGCAGGCATAATGCCAAAAACCTAGAGCCAACCTGCAGGTAATTAACATTTATTGTTCCCCTTTCAGGGAACCTCACAAGCACAGACGATCAAAGGTCAGTTCCTGGTCAACATAAGTAAACAAGCCTGTTTAAGATAAATTCTCCCACACTCCCTTGTACCTACTCCTTGCCCTCTGCCTCAGGGTTATAGAACAGCTATTCTCCCCTGGGGCTCTGCAGAACCTTCTGACCTTTCAGAAGGTTTGCATCCTTTCCCTATAGTTTTTCCCACCACTCTGACCGATCCCCCACAGAGGCCCAGGGGTGACACAGGGGAATAAGCCCTCAAATCTGCCTGGGAGATTCAGGGAAGGCTTCACAGAGGAGTTAGAATTTGACAAGAAGCACCTGCAGTCAGACAAATGGGGCTCAGATGCTCCAAGCAGGGGCTGCAGGGCACGGAACAGTGTGGAGTTGTGACAGAGCAGGTTGCATTTGGGGCCAATGA
|
ATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGGTGCCGGGCCTCAGCCTGTGCTGCTGCAGCCAGGAGCAAATACGGGGAAGTCTGGCTAAGGAGAACGCGTGCCTGTGTGGGCCCCAAGGATCCATCTCCAGATCAGGAGGAACAAGCCCGATGACCTTGACAGGCAGCTCAGGAGGTTTCTGGCTCCTGCCCCAGAGGCCCAAGATGAGGACGTGGCAACATAGGGAGGCCCAGGGAATGATGAGCTCAGGGAGAGGTGGCCAGACCACCTGAGACACCTGTTAAAGTGCACTTTCCCATGCCCAGAACTGCGAGCTCCTGAGACCAGTTGCAGAAACCAGCATGTTTTACTGGCTCCCAGGCGGTTCTGATGGAGGATGTCCCAGGAGGGGACTCTGAGATGGGCTATTTGTAATCTACGGCAACTGCCTCACAACAGAGTGTGTTCGTGGAGAAGAGGAAACTGGGCACCGAGGGCTCAGAAGCAGATGGCAGATAATCAGGAATATGTGAAAAATTATGGCACCTCCATATATAATAAAATATTACAGACATTTCTAAGGGAAAAGGTAGGCTTCTGAGAAATGACACAGAGATTGCCTATGACATTAAGTGTACAAAACCAGGGAACGTTAACAGTACACACAGAACAAGCAATCACATCTTGTGACATACATGTTACAAACATACACATGTATAACATATATCCCTGTGTGCATATGTGCACAACTGATGGCTGGCAGATGGATCCCTAATCCATTGTCATCTGTTAGCCCTGAGCAGGTGGGAGAAAAGGGCAGGATGTTCTGGCCCTGAATTACATGCTCTGTATCCTTTTTTCTTTTCATGATAAGCACATGTTATGATTTACTATTATCCTATTTCATATTTGATGATATGAAAATTATTTTCCTTTCTCTAAGTATAACAGTATTATGGTTATACTTCAAAAGAGGCAATATTTTTCAGAGACAGTGATCGGAAAATGGAACCATCTGGGATTTGCTTCGAAACAATTCAGAGATGGGGGAGTGGGTGAGGATGAGAGGAACAAGACTATGTGAGTGGGAAACGGGGGGAGCTGCTGTTTTATTCCCTGCTCTTGGAATGTTGAAGAATTTAAAAAATGCTTTTAAAAAGATAGTTTCATTTTTGGAAAAGTAGGAAACAGCCTTAGGGGGAGATAAAGACTTGAAAAGCCCAGGCTCTCGGCAGAGAAGACAGCGGGGATAGGGGTGGGAGGGCTGGAGCCAGGCGTGAAGAGCTTGCTGGGCTCTGCCAGGATTGTTCTGGATCCTCTCCACCCAAACTAAAAGTCCTCCAACCCTCCAGGTTAAAAATGGGGGTTACAAGAGCTCTGCCACACAAATGGAGGGTTCCTGCTGCATTCATCAAGAAAAAAAAAAAAGTTGCTGCAAGACCCTCCCCCACCCACCCACACCTATCCGTCAAGCATCTAAGACAGAGGTCTCAGGACTAACAAGCTGATCATAAAAATGCCCCAGGATCCCACTTTGTTTGTGAACCACTGGTTCACAAAAGAGAACACACCCATGTTTATGTCAATGGCAATTTTGCAAAGCATGTTTCACAGGAAAGTTCAGATGTTTTGACTCACCAGGGAATTTCAAAATGCTTACCATGATCCGAGGTAAATGCAATGATGGTGCTGTTGGCCAGCTGAAGATCGTCCAAAGCACTCAAGAGGCGGCCGACCTGTGTATCCAAATATGACACAGAGGCAAAGTAGCTCTGGCGGATTTTTCCGCTGCAAATTGAAAAAAAATAAAAATGAGAGTGACTGCAATTTAAATTGCCAAGGCATACAGAGATAATGCTTGCCTGTGCATCTCTCCCAATCCCTACCCCTTAGTTGATGCCCTTAATGATTTTCTCAGCCAAAATGTAACACTCCTTTCCCTACCATCAGCATCACTTCACCCACAGAGTCACAGCAAAATCTGTAGGTCTACAAATAAGATACATTTCTAAGCAAATCAGATTTCACTTTAGGGCACAGATCACAGTGGATGAATGTGTCACCTACTGCTCTGTTGTTTTAAGCTGAAATGTATTGTCTCCTAGCTCTGGAGGCTAGAAGTCCAAGATCAAGGTGCTGGGAGGGCCATTCTCTCCCTGAAGGCTCTAAGTAGAAGAATCTTGCCTCTCCCTAGCTGGTGGTGGTGGCTGTCAGTCCCTGGCATTCCTCAGCTTGCAGCTGTATCACTGTGTCTCCATCTTCATGTGTTCTTCCCGTGTCTCTCTCCCCTCTTCTTAAAGGACACCGATCATATTGGATTAGGAGCCCACCTTACTCCAATATGACCTGATCTTAACTAATTACATCTGCAATAAACCTATTTCCAAATATGGTTACATTCAGCAGTACTGGGGGGTTAGGATGTCAACAGCCCTTTTCAGGGAAAAAAAAATTCATAATTTAACACATAACAGCAACCCTGACTGAGCCTTTCCCTCTGATCACTTGCTAACCCAACAGCAGATTACAACTGCATATCTTCATGAACTATGGCCGTTACGTGGAGCTCATTTCTAACAAACTGTCAGCAGGCAGGAGAAGAGCAAAGGAGATACCAGAGAGCAGCACGTCCTTCACAGTCCCTGAACCCAAGAGGCACTTTGGGAACAGCCAGATCATGCCCTGAAGTAAATGAGCCACCGGCCCCTCCTGGGCTGACTCTCATTCCCAACCTGGTTCACAAATGCTAAGGACAAAAATTAATCTTCCACCCCAAAGAGGGGTGAGAAGAGAGCCGTGTCTTCGCAGACCAGCCCCTGACTTATCAGCTGGACCCACCAGCTTCTTCTCATCACTGCCAGGGTGAGGACAATCATGAGACTCACCCGTTCTCACTTGCAGTCAAGAGAAAAGATATACATCTAGCCTTCCAGCAGGATTATGCTGAGCCCTGGCCTACTTATACTTTCTGGTAGATGAAGTCTTCAGTCTGAAACCTGTGGAACTTTGGTCCTCCTGGGGATGAAAGACACCTGTCAGGATGGCTATGTCCTATACAAAGGTATTCCCTCCTTCCTATGCTAGCCCCTGGACGTAAGGCAATAAGCAGACAAGGTCCTCACCCTTGATGAGCCACCCCATCCAGTGAGGACACAATCATGGAGACAAGAAAATGCTTAATTATCAGTGAGGCCTGCTGGGTCTGTCCTGCAGACCCTGGCCTATGGATGAAATGAGTACTCAGACACAGGTATGCAGCATAAGAGCAGCTAGGTTACTGCCTGGCTCTAGTGGCCAGAGAGCAGCCCCGAGAAGCTGGAGCTGCTGGCTTTTATTCAGTGCAGGCATAATGCCAAAAACCTAGAGCCAACCTGCAGGTAATTAACATTTATTGTTCCCCTTTCAGGGAACCTCACAAGCACAGACGATCAAAGGTCAGTTCCTGGTCAACATAAGTAAACAAGCCTGTTTAAGATAAATTCTCCCACACTCCCTTGTACCTACTCCTTGCCCTCTGCCTCAGGGTTATAGAACAGCTATTCTCCCCTGGGGCTCTGCAGAACCTTCTGACCTTTCAGAAGGTTTGCATCCTTTCCCTATAGTTTTTCCCACCACTCTGACCGATCCCCCACAGAGGCCCAGGGGTGACACAGGGGAATAAGCCCTCAAATCTGCCTGGGAGATTCAGGGAAGGCTTCACAGAGGAGTTAGAATTTGACAAGAAGCACCTGCAGTCAGACAAATGGGGCTCAGATGCTCCAAGCAGGGGCTGCAGGGCACGGAACAGTGTGGAGTTGTGACAGAGCAGGTTGCATTTGGGGCCAATG
|
pathogenic
| 339,769 |
Evaluate this variant at chromosome X, position 149496357, gene IDS: benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
GGACCTGGACACAAGGGGGAGATAGAAATCCATACTCTAGCAATCCCCGTGAGGTAGAGCAAGGGAAGTGCTAGGAGAAGAGGTTGTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGTGCAGCCGACACGGTCCTAGATACTTCTACATGCTCTCTTTGGTTCTTGCTGAAAATCTCTAAAGTAGGTGTTATCATGGAAAAACTTTACCTACCTTGTTTCAGTTTTATAGAGAAGAAAACTCAGGGAGGCTCAGGGAGGTAACATGACTTGACAGAGGTTAGGCAGCTGGTATGAGGTAGAACATGAATTCGAACCCACACTGCTGGGAACCAACAGATCCAACCATGGGGCTTTGGAGTTACAGTCCCTGGGGATGAATTGGCTCCACCCAGCACTAATTTTGTGCTGTCAGACAAGTCAGCACACCTCCCATGCCTTGAGTTTCCTCACCTAGACAACAGAGAGCAGGTACCTCACTAAGTCCCCATGAGGACTAAAGGCGATACCACACATGAATCAGCGCCCTTCCTGGCACACAGTCCATTTTGAAGGGTCATTTTAAGTGACCATCACTAATAAAGCATCCAGGTGCAGCCTCAGAGCCAGTTCAAGCCACTTCACCATCAGGAGCCCAGAAACACAAAATTAGAAAACAAACAGATGGATGCATTGCTTTCCAAACTCTCAGTGAAACAGGAATCAAATACATTTGAGGAATGTACACCTCTCACCAACCAAACTCTTGTTGTGCAAACTCAGGGGCCAAGTAAGTTTGGATAGCAAGGGATATCTGTATGCAGTGGTTTTGTTCTGTGTTTGCTTTAAACAATACTCTACAGCAGAGGCTCTCAAACTTCTGATGAATCAGAATCACCTGGTGTGCTTTTTTTTTTTTTTTTTAAGAAATGTCGGTTGTCAGGTCAAGTTCCACCTCCAGCTTCCAATTGTGTAAATCTGAGTGGGCCAAGACTTTGCATTTCCAACAAGCCCTCCCAGAAATTCTAAGGCAGGTAGTCCAGGATGCACACTTTGAAAACACTGCCATCTTCCATCCGCTATAGCTTGCCTGCCACAGCATTCATGTGGTAAGAGAAGGGCAGGGTTCTGTGTGGAATATTCCAGAAAGAGCATTAGTCAATGTGTATTCTGCTCTCCAGGGAGAAAGGGTGACTGATGAGTCAGTGTGAGGATTCTAATTGTGTGGTTGCTCCGCCCCTAAATCATGGCAAAGGAATGCCGGACATCACAGCTGGGTGGCACTGGCCATGATGGTGTCCCAGTTCCCTCTGCACCAAGGGCCTGTTCACCAAGCCACCCCCTGAGAGTGACAGCTAGCCAGGATGGGCTTTCCCACAGAGGGAACCTGCAAGTACCAGCAAACCAAGCATTCTGGGCTGCTCGGGAGTTGCCCATCACTCTACAATTAATGAGCTGTCACCTGAACAGTATCCCCTGGGTTAGGAACGGTCACCCAGGCTGGTTCCCCACCTCTGTGTCCACACACAACAAGTCACCAACTCTCTGGACATTCCCTTCTTTAGAAAGTAAGACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCT
|
GGACCTGGACACAAGGGGGAGATAGAAATCCATACTCTAGCAATCCCCGTGAGGTAGAGCAAGGGAAGTGCTAGGAGAAGAGGTTGTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGTGCAGCCGACACGGTCCTAGATACTTCTACATGCTCTCTTTGGTTCTTGCTGAAAATCTCTAAAGTAGGTGTTATCATGGAAAAACTTTACCTACCTTGTTTCAGTTTTATAGAGAAGAAAACTCAGGGAGGCTCAGGGAGGTAACATGACTTGACAGAGGTTAGGCAGCTGGTATGAGGTAGAACATGAATTCGAACCCACACTGCTGGGAACCAACAGATCCAACCATGGGGCTTTGGAGTTACAGTCCCTGGGGATGAATTGGCTCCACCCAGCACTAATTTTGTGCTGTCAGACAAGTCAGCACACCTCCCATGCCTTGAGTTTCCTCACCTAGACAACAGAGAGCAGGTACCTCACTAAGTCCCCATGAGGACTAAAGGCGATACCACACATGAATCAGCGCCCTTCCTGGCACACAGTCCATTTTGAAGGGTCATTTTAAGTGACCATCACTAATAAAGCATCCAGGTGCAGCCTCAGAGCCAGTTCAAGCCACTTCACCATCAGGAGCCCAGAAACACAAAATTAGAAAACAAACAGATGGATGCATTGCTTTCCAAACTCTCAGTGAAACAGGAATCAAATACATTTGAGGAATGTACACCTCTCACCAACCAAACTCTTGTTGTGCAAACTCAGGGGCCAAGTAAGTTTGGATAGCAAGGGATATCTGTATGCAGTGGTTTTGTTCTGTGTTTGCTTTAAACAATACTCTACAGCAGAGGCTCTCAAACTTCTGATGAATCAGAATCACCTGGTGTGCTTTTTTTTTTTTTTTTTAAGAAATGTCGGTTGTCAGGTCAAGTTCCACCTCCAGCTTCCAATTGTGTAAATCTGAGTGGGCCAAGACTTTGCATTTCCAACAAGCCCTCCCAGAAATTCTAAGGCAGGTAGTCCAGGATGCACACTTTGAAAACACTGCCATCTTCCATCCGCTATAGCTTGCCTGCCACAGCATTCATGTGGTAAGAGAAGGGCAGGGTTCTGTGTGGAATATTCCAGAAAGAGCATTAGTCAATGTGTATTCTGCTCTCCAGGGAGAAAGGGTGACTGATGAGTCAGTGTGAGGATTCTAATTGTGTGGTTGCTCCGCCCCTAAATCATGGCAAAGGAATGCCGGACATCACAGCTGGGTGGCACTGGCCATGATGGTGTCCCAGTTCCCTCTGCACCAAGGGCCTGTTCACCAAGCCACCCCCTGAGAGTGACAGCTAGCCAGGATGGGCTTTCCCACAGAGGGAACCTGCAAGTACCAGCAAACCAAGCATTCTGGGCTGCTCGGGAGTTGCCCATCACTCTACAATTAATGAGCTGTCACCTGAACAGTATCCCCTGGGTTAGGAACGGTCACCCAGGCTGGTTCCCCACCTCTGTGTCCACACACAACAAGTCACCAACTCTCTGGACATTCCCTTCTTTAGAAAGTAAGACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTN
|
pathogenic
| 339,775 |
Variant on chromosome X, at position 149496382, affecting IDS: is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
AAATCCATACTCTAGCAATCCCCGTGAGGTAGAGCAAGGGAAGTGCTAGGAGAAGAGGTTGTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGTGCAGCCGACACGGTCCTAGATACTTCTACATGCTCTCTTTGGTTCTTGCTGAAAATCTCTAAAGTAGGTGTTATCATGGAAAAACTTTACCTACCTTGTTTCAGTTTTATAGAGAAGAAAACTCAGGGAGGCTCAGGGAGGTAACATGACTTGACAGAGGTTAGGCAGCTGGTATGAGGTAGAACATGAATTCGAACCCACACTGCTGGGAACCAACAGATCCAACCATGGGGCTTTGGAGTTACAGTCCCTGGGGATGAATTGGCTCCACCCAGCACTAATTTTGTGCTGTCAGACAAGTCAGCACACCTCCCATGCCTTGAGTTTCCTCACCTAGACAACAGAGAGCAGGTACCTCACTAAGTCCCCATGAGGACTAAAGGCGATACCACACATGAATCAGCGCCCTTCCTGGCACACAGTCCATTTTGAAGGGTCATTTTAAGTGACCATCACTAATAAAGCATCCAGGTGCAGCCTCAGAGCCAGTTCAAGCCACTTCACCATCAGGAGCCCAGAAACACAAAATTAGAAAACAAACAGATGGATGCATTGCTTTCCAAACTCTCAGTGAAACAGGAATCAAATACATTTGAGGAATGTACACCTCTCACCAACCAAACTCTTGTTGTGCAAACTCAGGGGCCAAGTAAGTTTGGATAGCAAGGGATATCTGTATGCAGTGGTTTTGTTCTGTGTTTGCTTTAAACAATACTCTACAGCAGAGGCTCTCAAACTTCTGATGAATCAGAATCACCTGGTGTGCTTTTTTTTTTTTTTTTTAAGAAATGTCGGTTGTCAGGTCAAGTTCCACCTCCAGCTTCCAATTGTGTAAATCTGAGTGGGCCAAGACTTTGCATTTCCAACAAGCCCTCCCAGAAATTCTAAGGCAGGTAGTCCAGGATGCACACTTTGAAAACACTGCCATCTTCCATCCGCTATAGCTTGCCTGCCACAGCATTCATGTGGTAAGAGAAGGGCAGGGTTCTGTGTGGAATATTCCAGAAAGAGCATTAGTCAATGTGTATTCTGCTCTCCAGGGAGAAAGGGTGACTGATGAGTCAGTGTGAGGATTCTAATTGTGTGGTTGCTCCGCCCCTAAATCATGGCAAAGGAATGCCGGACATCACAGCTGGGTGGCACTGGCCATGATGGTGTCCCAGTTCCCTCTGCACCAAGGGCCTGTTCACCAAGCCACCCCCTGAGAGTGACAGCTAGCCAGGATGGGCTTTCCCACAGAGGGAACCTGCAAGTACCAGCAAACCAAGCATTCTGGGCTGCTCGGGAGTTGCCCATCACTCTACAATTAATGAGCTGTCACCTGAACAGTATCCCCTGGGTTAGGAACGGTCACCCAGGCTGGTTCCCCACCTCTGTGTCCACACACAACAAGTCACCAACTCTCTGGACATTCCCTTCTTTAGAAAGTAAGACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTTCACGTGTTAGTCACTCAGACTGAA
|
AAATCCATACTCTAGCAATCCCCGTGAGGTAGAGCAAGGGAAGTGCTAGGAGAAGAGGTTGTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGTGCAGCCGACACGGTCCTAGATACTTCTACATGCTCTCTTTGGTTCTTGCTGAAAATCTCTAAAGTAGGTGTTATCATGGAAAAACTTTACCTACCTTGTTTCAGTTTTATAGAGAAGAAAACTCAGGGAGGCTCAGGGAGGTAACATGACTTGACAGAGGTTAGGCAGCTGGTATGAGGTAGAACATGAATTCGAACCCACACTGCTGGGAACCAACAGATCCAACCATGGGGCTTTGGAGTTACAGTCCCTGGGGATGAATTGGCTCCACCCAGCACTAATTTTGTGCTGTCAGACAAGTCAGCACACCTCCCATGCCTTGAGTTTCCTCACCTAGACAACAGAGAGCAGGTACCTCACTAAGTCCCCATGAGGACTAAAGGCGATACCACACATGAATCAGCGCCCTTCCTGGCACACAGTCCATTTTGAAGGGTCATTTTAAGTGACCATCACTAATAAAGCATCCAGGTGCAGCCTCAGAGCCAGTTCAAGCCACTTCACCATCAGGAGCCCAGAAACACAAAATTAGAAAACAAACAGATGGATGCATTGCTTTCCAAACTCTCAGTGAAACAGGAATCAAATACATTTGAGGAATGTACACCTCTCACCAACCAAACTCTTGTTGTGCAAACTCAGGGGCCAAGTAAGTTTGGATAGCAAGGGATATCTGTATGCAGTGGTTTTGTTCTGTGTTTGCTTTAAACAATACTCTACAGCAGAGGCTCTCAAACTTCTGATGAATCAGAATCACCTGGTGTGCTTTTTTTTTTTTTTTTTAAGAAATGTCGGTTGTCAGGTCAAGTTCCACCTCCAGCTTCCAATTGTGTAAATCTGAGTGGGCCAAGACTTTGCATTTCCAACAAGCCCTCCCAGAAATTCTAAGGCAGGTAGTCCAGGATGCACACTTTGAAAACACTGCCATCTTCCATCCGCTATAGCTTGCCTGCCACAGCATTCATGTGGTAAGAGAAGGGCAGGGTTCTGTGTGGAATATTCCAGAAAGAGCATTAGTCAATGTGTATTCTGCTCTCCAGGGAGAAAGGGTGACTGATGAGTCAGTGTGAGGATTCTAATTGTGTGGTTGCTCCGCCCCTAAATCATGGCAAAGGAATGCCGGACATCACAGCTGGGTGGCACTGGCCATGATGGTGTCCCAGTTCCCTCTGCACCAAGGGCCTGTTCACCAAGCCACCCCCTGAGAGTGACAGCTAGCCAGGATGGGCTTTCCCACAGAGGGAACCTGCAAGTACCAGCAAACCAAGCATTCTGGGCTGCTCGGGAGTTGCCCATCACTCTACAATTAATGAGCTGTCACCTGAACAGTATCCCCTGGGTTAGGAACGGTCACCCAGGCTGGTTCCCCACCTCTGTGTCCACACACAACAAGTCACCAACTCTCTGGACATTCCCTTCTTTAGAAAGTAAGACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTTCACGTGTTAGTCACTCAGACTGAANNNNN
|
pathogenic
| 339,777 |
The chromosome X, position 149496442 genetic variant in gene IDS: benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
GTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGTGCAGCCGACACGGTCCTAGATACTTCTACATGCTCTCTTTGGTTCTTGCTGAAAATCTCTAAAGTAGGTGTTATCATGGAAAAACTTTACCTACCTTGTTTCAGTTTTATAGAGAAGAAAACTCAGGGAGGCTCAGGGAGGTAACATGACTTGACAGAGGTTAGGCAGCTGGTATGAGGTAGAACATGAATTCGAACCCACACTGCTGGGAACCAACAGATCCAACCATGGGGCTTTGGAGTTACAGTCCCTGGGGATGAATTGGCTCCACCCAGCACTAATTTTGTGCTGTCAGACAAGTCAGCACACCTCCCATGCCTTGAGTTTCCTCACCTAGACAACAGAGAGCAGGTACCTCACTAAGTCCCCATGAGGACTAAAGGCGATACCACACATGAATCAGCGCCCTTCCTGGCACACAGTCCATTTTGAAGGGTCATTTTAAGTGACCATCACTAATAAAGCATCCAGGTGCAGCCTCAGAGCCAGTTCAAGCCACTTCACCATCAGGAGCCCAGAAACACAAAATTAGAAAACAAACAGATGGATGCATTGCTTTCCAAACTCTCAGTGAAACAGGAATCAAATACATTTGAGGAATGTACACCTCTCACCAACCAAACTCTTGTTGTGCAAACTCAGGGGCCAAGTAAGTTTGGATAGCAAGGGATATCTGTATGCAGTGGTTTTGTTCTGTGTTTGCTTTAAACAATACTCTACAGCAGAGGCTCTCAAACTTCTGATGAATCAGAATCACCTGGTGTGCTTTTTTTTTTTTTTTTTAAGAAATGTCGGTTGTCAGGTCAAGTTCCACCTCCAGCTTCCAATTGTGTAAATCTGAGTGGGCCAAGACTTTGCATTTCCAACAAGCCCTCCCAGAAATTCTAAGGCAGGTAGTCCAGGATGCACACTTTGAAAACACTGCCATCTTCCATCCGCTATAGCTTGCCTGCCACAGCATTCATGTGGTAAGAGAAGGGCAGGGTTCTGTGTGGAATATTCCAGAAAGAGCATTAGTCAATGTGTATTCTGCTCTCCAGGGAGAAAGGGTGACTGATGAGTCAGTGTGAGGATTCTAATTGTGTGGTTGCTCCGCCCCTAAATCATGGCAAAGGAATGCCGGACATCACAGCTGGGTGGCACTGGCCATGATGGTGTCCCAGTTCCCTCTGCACCAAGGGCCTGTTCACCAAGCCACCCCCTGAGAGTGACAGCTAGCCAGGATGGGCTTTCCCACAGAGGGAACCTGCAAGTACCAGCAAACCAAGCATTCTGGGCTGCTCGGGAGTTGCCCATCACTCTACAATTAATGAGCTGTCACCTGAACAGTATCCCCTGGGTTAGGAACGGTCACCCAGGCTGGTTCCCCACCTCTGTGTCCACACACAACAAGTCACCAACTCTCTGGACATTCCCTTCTTTAGAAAGTAAGACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTTCACGTGTTAGTCACTCAGACTGAACAGAGACATCAGAAGTAGAACTAAGACAGAAAAGGTGTTTCTTGTTTTCCAGGCAGGGGC
|
GTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGTGCAGCCGACACGGTCCTAGATACTTCTACATGCTCTCTTTGGTTCTTGCTGAAAATCTCTAAAGTAGGTGTTATCATGGAAAAACTTTACCTACCTTGTTTCAGTTTTATAGAGAAGAAAACTCAGGGAGGCTCAGGGAGGTAACATGACTTGACAGAGGTTAGGCAGCTGGTATGAGGTAGAACATGAATTCGAACCCACACTGCTGGGAACCAACAGATCCAACCATGGGGCTTTGGAGTTACAGTCCCTGGGGATGAATTGGCTCCACCCAGCACTAATTTTGTGCTGTCAGACAAGTCAGCACACCTCCCATGCCTTGAGTTTCCTCACCTAGACAACAGAGAGCAGGTACCTCACTAAGTCCCCATGAGGACTAAAGGCGATACCACACATGAATCAGCGCCCTTCCTGGCACACAGTCCATTTTGAAGGGTCATTTTAAGTGACCATCACTAATAAAGCATCCAGGTGCAGCCTCAGAGCCAGTTCAAGCCACTTCACCATCAGGAGCCCAGAAACACAAAATTAGAAAACAAACAGATGGATGCATTGCTTTCCAAACTCTCAGTGAAACAGGAATCAAATACATTTGAGGAATGTACACCTCTCACCAACCAAACTCTTGTTGTGCAAACTCAGGGGCCAAGTAAGTTTGGATAGCAAGGGATATCTGTATGCAGTGGTTTTGTTCTGTGTTTGCTTTAAACAATACTCTACAGCAGAGGCTCTCAAACTTCTGATGAATCAGAATCACCTGGTGTGCTTTTTTTTTTTTTTTTTAAGAAATGTCGGTTGTCAGGTCAAGTTCCACCTCCAGCTTCCAATTGTGTAAATCTGAGTGGGCCAAGACTTTGCATTTCCAACAAGCCCTCCCAGAAATTCTAAGGCAGGTAGTCCAGGATGCACACTTTGAAAACACTGCCATCTTCCATCCGCTATAGCTTGCCTGCCACAGCATTCATGTGGTAAGAGAAGGGCAGGGTTCTGTGTGGAATATTCCAGAAAGAGCATTAGTCAATGTGTATTCTGCTCTCCAGGGAGAAAGGGTGACTGATGAGTCAGTGTGAGGATTCTAATTGTGTGGTTGCTCCGCCCCTAAATCATGGCAAAGGAATGCCGGACATCACAGCTGGGTGGCACTGGCCATGATGGTGTCCCAGTTCCCTCTGCACCAAGGGCCTGTTCACCAAGCCACCCCCTGAGAGTGACAGCTAGCCAGGATGGGCTTTCCCACAGAGGGAACCTGCAAGTACCAGCAAACCAAGCATTCTGGGCTGCTCGGGAGTTGCCCATCACTCTACAATTAATGAGCTGTCACCTGAACAGTATCCCCTGGGTTAGGAACGGTCACCCAGGCTGGTTCCCCACCTCTGTGTCCACACACAACAAGTCACCAACTCTCTGGACATTCCCTTCTTTAGAAAGTAAGACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTTCACGTGTTAGTCACTCAGACTGAACAGAGACATCAGAAGTAGAACTAAGACAGAAAAGGTGTTTCTTGTTTTCCAGGCAGGGGCN
|
pathogenic
| 339,789 |
Regarding the variant at chromosome X and position 149496457, affecting gene IDS: benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
ACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGTGCAGCCGACACGGTCCTAGATACTTCTACATGCTCTCTTTGGTTCTTGCTGAAAATCTCTAAAGTAGGTGTTATCATGGAAAAACTTTACCTACCTTGTTTCAGTTTTATAGAGAAGAAAACTCAGGGAGGCTCAGGGAGGTAACATGACTTGACAGAGGTTAGGCAGCTGGTATGAGGTAGAACATGAATTCGAACCCACACTGCTGGGAACCAACAGATCCAACCATGGGGCTTTGGAGTTACAGTCCCTGGGGATGAATTGGCTCCACCCAGCACTAATTTTGTGCTGTCAGACAAGTCAGCACACCTCCCATGCCTTGAGTTTCCTCACCTAGACAACAGAGAGCAGGTACCTCACTAAGTCCCCATGAGGACTAAAGGCGATACCACACATGAATCAGCGCCCTTCCTGGCACACAGTCCATTTTGAAGGGTCATTTTAAGTGACCATCACTAATAAAGCATCCAGGTGCAGCCTCAGAGCCAGTTCAAGCCACTTCACCATCAGGAGCCCAGAAACACAAAATTAGAAAACAAACAGATGGATGCATTGCTTTCCAAACTCTCAGTGAAACAGGAATCAAATACATTTGAGGAATGTACACCTCTCACCAACCAAACTCTTGTTGTGCAAACTCAGGGGCCAAGTAAGTTTGGATAGCAAGGGATATCTGTATGCAGTGGTTTTGTTCTGTGTTTGCTTTAAACAATACTCTACAGCAGAGGCTCTCAAACTTCTGATGAATCAGAATCACCTGGTGTGCTTTTTTTTTTTTTTTTTAAGAAATGTCGGTTGTCAGGTCAAGTTCCACCTCCAGCTTCCAATTGTGTAAATCTGAGTGGGCCAAGACTTTGCATTTCCAACAAGCCCTCCCAGAAATTCTAAGGCAGGTAGTCCAGGATGCACACTTTGAAAACACTGCCATCTTCCATCCGCTATAGCTTGCCTGCCACAGCATTCATGTGGTAAGAGAAGGGCAGGGTTCTGTGTGGAATATTCCAGAAAGAGCATTAGTCAATGTGTATTCTGCTCTCCAGGGAGAAAGGGTGACTGATGAGTCAGTGTGAGGATTCTAATTGTGTGGTTGCTCCGCCCCTAAATCATGGCAAAGGAATGCCGGACATCACAGCTGGGTGGCACTGGCCATGATGGTGTCCCAGTTCCCTCTGCACCAAGGGCCTGTTCACCAAGCCACCCCCTGAGAGTGACAGCTAGCCAGGATGGGCTTTCCCACAGAGGGAACCTGCAAGTACCAGCAAACCAAGCATTCTGGGCTGCTCGGGAGTTGCCCATCACTCTACAATTAATGAGCTGTCACCTGAACAGTATCCCCTGGGTTAGGAACGGTCACCCAGGCTGGTTCCCCACCTCTGTGTCCACACACAACAAGTCACCAACTCTCTGGACATTCCCTTCTTTAGAAAGTAAGACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTTCACGTGTTAGTCACTCAGACTGAACAGAGACATCAGAAGTAGAACTAAGACAGAAAAGGTGTTTCTTGTTTTCCAGGCAGGGGCCAGAAATCCACTAGC
|
ACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGTGCAGCCGACACGGTCCTAGATACTTCTACATGCTCTCTTTGGTTCTTGCTGAAAATCTCTAAAGTAGGTGTTATCATGGAAAAACTTTACCTACCTTGTTTCAGTTTTATAGAGAAGAAAACTCAGGGAGGCTCAGGGAGGTAACATGACTTGACAGAGGTTAGGCAGCTGGTATGAGGTAGAACATGAATTCGAACCCACACTGCTGGGAACCAACAGATCCAACCATGGGGCTTTGGAGTTACAGTCCCTGGGGATGAATTGGCTCCACCCAGCACTAATTTTGTGCTGTCAGACAAGTCAGCACACCTCCCATGCCTTGAGTTTCCTCACCTAGACAACAGAGAGCAGGTACCTCACTAAGTCCCCATGAGGACTAAAGGCGATACCACACATGAATCAGCGCCCTTCCTGGCACACAGTCCATTTTGAAGGGTCATTTTAAGTGACCATCACTAATAAAGCATCCAGGTGCAGCCTCAGAGCCAGTTCAAGCCACTTCACCATCAGGAGCCCAGAAACACAAAATTAGAAAACAAACAGATGGATGCATTGCTTTCCAAACTCTCAGTGAAACAGGAATCAAATACATTTGAGGAATGTACACCTCTCACCAACCAAACTCTTGTTGTGCAAACTCAGGGGCCAAGTAAGTTTGGATAGCAAGGGATATCTGTATGCAGTGGTTTTGTTCTGTGTTTGCTTTAAACAATACTCTACAGCAGAGGCTCTCAAACTTCTGATGAATCAGAATCACCTGGTGTGCTTTTTTTTTTTTTTTTTAAGAAATGTCGGTTGTCAGGTCAAGTTCCACCTCCAGCTTCCAATTGTGTAAATCTGAGTGGGCCAAGACTTTGCATTTCCAACAAGCCCTCCCAGAAATTCTAAGGCAGGTAGTCCAGGATGCACACTTTGAAAACACTGCCATCTTCCATCCGCTATAGCTTGCCTGCCACAGCATTCATGTGGTAAGAGAAGGGCAGGGTTCTGTGTGGAATATTCCAGAAAGAGCATTAGTCAATGTGTATTCTGCTCTCCAGGGAGAAAGGGTGACTGATGAGTCAGTGTGAGGATTCTAATTGTGTGGTTGCTCCGCCCCTAAATCATGGCAAAGGAATGCCGGACATCACAGCTGGGTGGCACTGGCCATGATGGTGTCCCAGTTCCCTCTGCACCAAGGGCCTGTTCACCAAGCCACCCCCTGAGAGTGACAGCTAGCCAGGATGGGCTTTCCCACAGAGGGAACCTGCAAGTACCAGCAAACCAAGCATTCTGGGCTGCTCGGGAGTTGCCCATCACTCTACAATTAATGAGCTGTCACCTGAACAGTATCCCCTGGGTTAGGAACGGTCACCCAGGCTGGTTCCCCACCTCTGTGTCCACACACAACAAGTCACCAACTCTCTGGACATTCCCTTCTTTAGAAAGTAAGACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTTCACGTGTTAGTCACTCAGACTGAACAGAGACATCAGAAGTAGAACTAAGACAGAAAAGGTGTTTCTTGTTTTCCAGGCAGGGGCCAGAAATCCACTAGCNNNNNNNNNNNNNN
|
pathogenic
| 339,790 |
Variant at chromosome position 149498182, chromosome X, gene IDS: benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Inborn_genetic_diseases', 'Mucopolysaccharidosis,_MPS-II']
|
ACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTTCACGTGTTAGTCACTCAGACTGAACAGAGACATCAGAAGTAGAACTAAGACAGAAAAGGTGTTTCTTGTTTTCCAGGCAGGGGCCAGAAATCCACTAGCACTTGGTTTCTTGCTACTAATACTCTTTCTCCAGATCATAACTAATTAAAAGAAACCCCGATAGACTAATTATAAAAAAAAATCCATCTCTAATTCAACAATTAAAAAATGCCAATTAAAAATGGGCAAAGGATTTGGATAGACATTTCTCCAAAGATGATATACAAATGGCCAATTGAACATGGAAATGTGGCTAACATCATTAGTCATTAGGGAAATGCAAATCAAAACCACTTCACACCCAAAAGGATGGTTATAATTTTTTAAGATGGAAAATAACAAGTGTTGACGAGGATGCAGAAAAATTAGAACCCTCTCACATTGCTGGTGGGAATGTAAAATAGTGCAGCCACTTTGAAAGCCAGTCTGGCAATTCCTCAAACAGTTAAACATAGTTATTATACCCAAAAAAATTAAAAACATATGCCCATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTT
|
ACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTTCACGTGTTAGTCACTCAGACTGAACAGAGACATCAGAAGTAGAACTAAGACAGAAAAGGTGTTTCTTGTTTTCCAGGCAGGGGCCAGAAATCCACTAGCACTTGGTTTCTTGCTACTAATACTCTTTCTCCAGATCATAACTAATTAAAAGAAACCCCGATAGACTAATTATAAAAAAAAATCCATCTCTAATTCAACAATTAAAAAATGCCAATTAAAAATGGGCAAAGGATTTGGATAGACATTTCTCCAAAGATGATATACAAATGGCCAATTGAACATGGAAATGTGGCTAACATCATTAGTCATTAGGGAAATGCAAATCAAAACCACTTCACACCCAAAAGGATGGTTATAATTTTTTAAGATGGAAAATAACAAGTGTTGACGAGGATGCAGAAAAATTAGAACCCTCTCACATTGCTGGTGGGAATGTAAAATAGTGCAGCCACTTTGAAAGCCAGTCTGGCAATTCCTCAAACAGTTAAACATAGTTATTATACCCAAAAAAATTAAAAACATATGCCCATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTN
|
pathogenic
| 339,810 |
Mutation found at chromosome X position 149498212, gene IDS: benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
ACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTTCACGTGTTAGTCACTCAGACTGAACAGAGACATCAGAAGTAGAACTAAGACAGAAAAGGTGTTTCTTGTTTTCCAGGCAGGGGCCAGAAATCCACTAGCACTTGGTTTCTTGCTACTAATACTCTTTCTCCAGATCATAACTAATTAAAAGAAACCCCGATAGACTAATTATAAAAAAAAATCCATCTCTAATTCAACAATTAAAAAATGCCAATTAAAAATGGGCAAAGGATTTGGATAGACATTTCTCCAAAGATGATATACAAATGGCCAATTGAACATGGAAATGTGGCTAACATCATTAGTCATTAGGGAAATGCAAATCAAAACCACTTCACACCCAAAAGGATGGTTATAATTTTTTAAGATGGAAAATAACAAGTGTTGACGAGGATGCAGAAAAATTAGAACCCTCTCACATTGCTGGTGGGAATGTAAAATAGTGCAGCCACTTTGAAAGCCAGTCTGGCAATTCCTCAAACAGTTAAACATAGTTATTATACCCAAAAAAATTAAAAACATATGCCCATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTCCCTATTCAAGCCACAAGCCAAAGGCCAGA
|
ACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTTCACGTGTTAGTCACTCAGACTGAACAGAGACATCAGAAGTAGAACTAAGACAGAAAAGGTGTTTCTTGTTTTCCAGGCAGGGGCCAGAAATCCACTAGCACTTGGTTTCTTGCTACTAATACTCTTTCTCCAGATCATAACTAATTAAAAGAAACCCCGATAGACTAATTATAAAAAAAAATCCATCTCTAATTCAACAATTAAAAAATGCCAATTAAAAATGGGCAAAGGATTTGGATAGACATTTCTCCAAAGATGATATACAAATGGCCAATTGAACATGGAAATGTGGCTAACATCATTAGTCATTAGGGAAATGCAAATCAAAACCACTTCACACCCAAAAGGATGGTTATAATTTTTTAAGATGGAAAATAACAAGTGTTGACGAGGATGCAGAAAAATTAGAACCCTCTCACATTGCTGGTGGGAATGTAAAATAGTGCAGCCACTTTGAAAGCCAGTCTGGCAATTCCTCAAACAGTTAAACATAGTTATTATACCCAAAAAAATTAAAAACATATGCCCATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTCCCTATTCAAGCCACAAGCCAAAGGCCAGANN
|
pathogenic
| 339,813 |
Evaluate if the mutation on chromosome X at position 149498215 in IDS is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
CTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTTTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTTCACGTGTTAGTCACTCAGACTGAACAGAGACATCAGAAGTAGAACTAAGACAGAAAAGGTGTTTCTTGTTTTCCAGGCAGGGGCCAGAAATCCACTAGCACTTGGTTTCTTGCTACTAATACTCTTTCTCCAGATCATAACTAATTAAAAGAAACCCCGATAGACTAATTATAAAAAAAAATCCATCTCTAATTCAACAATTAAAAAATGCCAATTAAAAATGGGCAAAGGATTTGGATAGACATTTCTCCAAAGATGATATACAAATGGCCAATTGAACATGGAAATGTGGCTAACATCATTAGTCATTAGGGAAATGCAAATCAAAACCACTTCACACCCAAAAGGATGGTTATAATTTTTTAAGATGGAAAATAACAAGTGTTGACGAGGATGCAGAAAAATTAGAACCCTCTCACATTGCTGGTGGGAATGTAAAATAGTGCAGCCACTTTGAAAGCCAGTCTGGCAATTCCTCAAACAGTTAAACATAGTTATTATACCCAAAAAAATTAAAAACATATGCCCATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTCCCTATTCAAGCCACAAGCCAAAGGCCAGAGCT
|
CTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGATGTTCTCCAAGGGATACAACTTCTGAAATTCCTTGGGGAAAAACACAAAGCCACAAAGTTGTCACTCTTTTAGCAAAAGCACAAGCTTGTGGCTCTATCACTGTCTATACTGCCTTTTCTCTAAGCCTGGGATGCATTTGAGTGGTGGCTCACTAGCATTCCCCACGTGCTCGGCCCTGACCTGGAAGTCCAGCCTTAAGTTACTCTCATGAGATGCCAATGGCAATGAAATCATACGACTTCTGTTTCCTACAAACTGAGCAGCAACAACTCTCTTCCTTCATACAAACAGACGCCCTTCTGTTCCTGTCCCCACCTCCTGCCTGGCTAGAAAAGTGTGGTGAGGTGTTGGGTTCCCAAAACCACCCTCAGGTTCAGCAATTCACTAGGGGAACTCATAGGATTCAGCATTTAGTCTCACTCACAGCTATGACTTATTACAGTGAAACACACTCAGCAAAGAAAAAAGGCACATGAGGCAAAGTCTAGAGGAAACTAGGCACAAGCTTCAAGTCCTCTTCCAGGGAAGTCACATAGGATACTTACTTCTCCCAGCAACGAGTTGTGTGACAATACATGTGAAATGCTGCTAACTAGGGAAGCTCATTAAAGCCTCATTATCCAGTTTTTATTTGGGGCTGGTCAGGTAGGTACTATCTGTCTGGAACATATCAAAATTCCAGGCTCCCAGAAAAAAAAAAACAAACCCAGGGGTTTATCATCAACCATAATGTTTGTCTAAACGGTTTAAGCATAGTAAGCCAATTCTGGGAATAGTGAGAACACTTCAGAAATCAAAGTTCCCAGATGCCAGCCAAGGGCTAGACTTATAAGCAGGCCTTTCAAAGAATCACAGCCAGGCCAGCTTTGTTAACTGTTTTCTGCAAAGAGGCAGGAGAGGTGAACCTCACAGCCTTCTTCTATCAAGGGGGCTGACAGCTCCTACTAGGAAAGCAAGATCCCCTGGGCCAATCAAAGCAAGATACCTGCAACATCAAAGAGCATACTGCTGGTCTCTACTCTCATTACATGTGAGGGGCATTCTCTGCAAAGTCAAAAGGATGGGATGCTCAGGCCCTCATAAAACATGATAGGGAAAAATGGAAAAGGATTCTAAAACAGAAAAGACTACATGCTCTAAATGACATACAAGCAAGTACAGGATTTGAGGTTCCAAGAAGCAATGCAGTGCTTTGTGTTTAGATGATCTAACCTGACAGGCTCAGGGGGAACAGGCAGTTTTTGAAGAGAGTTTCACATTCCCTGGGGCTGTTTTGGAAGGGCCATCCCTTATTACAGGCTTTGGCAGCCAGCTCTGATTCACTACTCTGTGGTGATCTCACCATCCAACCCAACATCTGCTCAATAAGTTCAAGGAAAGGAAATCAAACCCTCCAGTGGAGTGAAGCGGAAAGCCAAGCATTTCTTACAAGATTCTTACATGTTCTTGGCCTTGACCTCTAAATCCCATCTTTACTCCACTGAGGACACTAGTGCCCATCAGGCAACCATGGTGCCTGGCGATGGCAGGATGTAGCCACCTTCCCTGTGCAAATCCCTCCCTCAACAAACAACACAGCTGTCACAGCTGTGCTGGATCAGCCCTCAACCAGCTCTTCACCTTGGGGTATCTGAAGGGGATGTGTGGCTTATGATACCCAACGGCCAGGAAGAAAGGACTGGCTGACGTTTTCATCTTTTCCAACAACTGTATGGCTTGCTCAGTGCTCTGTCAGGCAAGGTGCCCTCGGGAACATCCAGCACATCCACAGGGCAAAGCAGGTTGGCATGGAGTTCTCCATCTGGCCCTCGACATGTCTTTCAAAACAAAATAATATAACATCAGCTTTTTAAGTGCAAGAAATGAAGCCATGAAGGCTACACACACAGATTTAATGTTCACATAATCAGCCCTTCACGTGTTAGTCACTCAGACTGAACAGAGACATCAGAAGTAGAACTAAGACAGAAAAGGTGTTTCTTGTTTTCCAGGCAGGGGCCAGAAATCCACTAGCACTTGGTTTCTTGCTACTAATACTCTTTCTCCAGATCATAACTAATTAAAAGAAACCCCGATAGACTAATTATAAAAAAAAATCCATCTCTAATTCAACAATTAAAAAATGCCAATTAAAAATGGGCAAAGGATTTGGATAGACATTTCTCCAAAGATGATATACAAATGGCCAATTGAACATGGAAATGTGGCTAACATCATTAGTCATTAGGGAAATGCAAATCAAAACCACTTCACACCCAAAAGGATGGTTATAATTTTTTAAGATGGAAAATAACAAGTGTTGACGAGGATGCAGAAAAATTAGAACCCTCTCACATTGCTGGTGGGAATGTAAAATAGTGCAGCCACTTTGAAAGCCAGTCTGGCAATTCCTCAAACAGTTAAACATAGTTATTATACCCAAAAAAATTAAAAACATATGCCCATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTCCCTATTCAAGCCACAAGCCAAAGGCCAGAGCTNNNN
|
pathogenic
| 339,814 |
A genetic variant at chromosome X, position 149500977, affecting gene IDS—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
TGCCCATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTCCCTATTCAAGCCACAAGCCAAAGGCCAGAGCTCACAGTTTTCACTGTATTCTGAAATGGAAAGCTGTCAAGAACTTAGAACAATACCTTCCACCTCACTTCCAAATCCTCACCCTTCCCAACACGATGTTTACTAAAACCTCAGAGATACATTTCATGTCTCAGTTCCCTAGCTGGTTTTCTGAGTTTCTTAAATGTGGGTTTTAGTTTCATTTATACATTTGGGATTCCTCTAAACCAAGATTTTCTTTGTAGGTTACTTTTTTTCATAATGCTCTAAAAATTCAAAACCCCTATCAGAGGTCTCAGCTGCTGAACATACACATTAGGTCAGAGACAGATACACGGCATGCCTTTCTCCCATTCTGGGCTGAGGCTCCTGGAGCTCAGCCTCTTTTCTCCCTCCCATGTCTCAGCATCTCCTACAACTCTCAGTCTCATCCAGCGTGAGCACTGGGGAGCTATTCAATGAGTCTGACACGTTAGAGCCCAAGGTTTTAGAACAAGTAGCACCCACCAGCTTCTAGAATGAAGCCACTGCTCCTGTCGGGCCTAATGCTGAAGATCCCAACACTTACTTCTGTCAAAACATTATCACAAATGAAACCCACAACTTCGTGGTATATAACCAGCTTCACAGAACATGCAGTATACCCAGTAGTTTATGTGACAAAGGAAAAAGTGGTTCCTCTTCAGAAATGTCCCTTTCACAGCCTTACCTTAGTGTTTTCATACTTCTCAGAGGAAGGATGATAAGGTGGAAAAGACCAGCTATACGGAGAATCATCGGTATGGTTAGAAGATATCCCTTGGAAAAAAAAAAAGGTTGTTAAAACATGATGAGTCTTTCAACACCCCACTCCCCATAATTAAAACTCTGTAAACAAATGGGCAAGTGGAACCTCCCTTCTTTGGGGCTCAGTTTCCTCATCTACAAAAGGTCCCCTCTAAAGCCAAACTCTCTAGTTTCTATTTGAGAACTAAGCATCTGACTTCCTGGTCCCTAAGCCCTGATGATTTGTGCTAGGCTCTGTGGAAGGGACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACT
|
TGCCCATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTCCCTATTCAAGCCACAAGCCAAAGGCCAGAGCTCACAGTTTTCACTGTATTCTGAAATGGAAAGCTGTCAAGAACTTAGAACAATACCTTCCACCTCACTTCCAAATCCTCACCCTTCCCAACACGATGTTTACTAAAACCTCAGAGATACATTTCATGTCTCAGTTCCCTAGCTGGTTTTCTGAGTTTCTTAAATGTGGGTTTTAGTTTCATTTATACATTTGGGATTCCTCTAAACCAAGATTTTCTTTGTAGGTTACTTTTTTTCATAATGCTCTAAAAATTCAAAACCCCTATCAGAGGTCTCAGCTGCTGAACATACACATTAGGTCAGAGACAGATACACGGCATGCCTTTCTCCCATTCTGGGCTGAGGCTCCTGGAGCTCAGCCTCTTTTCTCCCTCCCATGTCTCAGCATCTCCTACAACTCTCAGTCTCATCCAGCGTGAGCACTGGGGAGCTATTCAATGAGTCTGACACGTTAGAGCCCAAGGTTTTAGAACAAGTAGCACCCACCAGCTTCTAGAATGAAGCCACTGCTCCTGTCGGGCCTAATGCTGAAGATCCCAACACTTACTTCTGTCAAAACATTATCACAAATGAAACCCACAACTTCGTGGTATATAACCAGCTTCACAGAACATGCAGTATACCCAGTAGTTTATGTGACAAAGGAAAAAGTGGTTCCTCTTCAGAAATGTCCCTTTCACAGCCTTACCTTAGTGTTTTCATACTTCTCAGAGGAAGGATAAGGTGGAAAAGACCAGCTATACGGAGAATCATCGGTATGGTTAGAAGATATCCCTTGGAAAAAAAAAAAGGTTGTTAAAACATGATGAGTCTTTCAACACCCCACTCCCCATAATTAAAACTCTGTAAACAAATGGGCAAGTGGAACCTCCCTTCTTTGGGGCTCAGTTTCCTCATCTACAAAAGGTCCCCTCTAAAGCCAAACTCTCTAGTTTCTATTTGAGAACTAAGCATCTGACTTCCTGGTCCCTAAGCCCTGATGATTTGTGCTAGGCTCTGTGGAAGGGACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTNNN
|
pathogenic
| 339,823 |
Variant in IDS, chromosome X, position 149500981—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
CATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTCCCTATTCAAGCCACAAGCCAAAGGCCAGAGCTCACAGTTTTCACTGTATTCTGAAATGGAAAGCTGTCAAGAACTTAGAACAATACCTTCCACCTCACTTCCAAATCCTCACCCTTCCCAACACGATGTTTACTAAAACCTCAGAGATACATTTCATGTCTCAGTTCCCTAGCTGGTTTTCTGAGTTTCTTAAATGTGGGTTTTAGTTTCATTTATACATTTGGGATTCCTCTAAACCAAGATTTTCTTTGTAGGTTACTTTTTTTCATAATGCTCTAAAAATTCAAAACCCCTATCAGAGGTCTCAGCTGCTGAACATACACATTAGGTCAGAGACAGATACACGGCATGCCTTTCTCCCATTCTGGGCTGAGGCTCCTGGAGCTCAGCCTCTTTTCTCCCTCCCATGTCTCAGCATCTCCTACAACTCTCAGTCTCATCCAGCGTGAGCACTGGGGAGCTATTCAATGAGTCTGACACGTTAGAGCCCAAGGTTTTAGAACAAGTAGCACCCACCAGCTTCTAGAATGAAGCCACTGCTCCTGTCGGGCCTAATGCTGAAGATCCCAACACTTACTTCTGTCAAAACATTATCACAAATGAAACCCACAACTTCGTGGTATATAACCAGCTTCACAGAACATGCAGTATACCCAGTAGTTTATGTGACAAAGGAAAAAGTGGTTCCTCTTCAGAAATGTCCCTTTCACAGCCTTACCTTAGTGTTTTCATACTTCTCAGAGGAAGGATGATAAGGTGGAAAAGACCAGCTATACGGAGAATCATCGGTATGGTTAGAAGATATCCCTTGGAAAAAAAAAAAGGTTGTTAAAACATGATGAGTCTTTCAACACCCCACTCCCCATAATTAAAACTCTGTAAACAAATGGGCAAGTGGAACCTCCCTTCTTTGGGGCTCAGTTTCCTCATCTACAAAAGGTCCCCTCTAAAGCCAAACTCTCTAGTTTCTATTTGAGAACTAAGCATCTGACTTCCTGGTCCCTAAGCCCTGATGATTTGTGCTAGGCTCTGTGGAAGGGACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCA
|
CATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTCCCTATTCAAGCCACAAGCCAAAGGCCAGAGCTCACAGTTTTCACTGTATTCTGAAATGGAAAGCTGTCAAGAACTTAGAACAATACCTTCCACCTCACTTCCAAATCCTCACCCTTCCCAACACGATGTTTACTAAAACCTCAGAGATACATTTCATGTCTCAGTTCCCTAGCTGGTTTTCTGAGTTTCTTAAATGTGGGTTTTAGTTTCATTTATACATTTGGGATTCCTCTAAACCAAGATTTTCTTTGTAGGTTACTTTTTTTCATAATGCTCTAAAAATTCAAAACCCCTATCAGAGGTCTCAGCTGCTGAACATACACATTAGGTCAGAGACAGATACACGGCATGCCTTTCTCCCATTCTGGGCTGAGGCTCCTGGAGCTCAGCCTCTTTTCTCCCTCCCATGTCTCAGCATCTCCTACAACTCTCAGTCTCATCCAGCGTGAGCACTGGGGAGCTATTCAATGAGTCTGACACGTTAGAGCCCAAGGTTTTAGAACAAGTAGCACCCACCAGCTTCTAGAATGAAGCCACTGCTCCTGTCGGGCCTAATGCTGAAGATCCCAACACTTACTTCTGTCAAAACATTATCACAAATGAAACCCACAACTTCGTGGTATATAACCAGCTTCACAGAACATGCAGTATACCCAGTAGTTTATGTGACAAAGGAAAAAGTGGTTCCTCTTCAGAAATGTCCCTTTCACAGCCTTACCTTAGTGTTTTCATACTTCTCAGAGGAAGGATGTAAGGTGGAAAAGACCAGCTATACGGAGAATCATCGGTATGGTTAGAAGATATCCCTTGGAAAAAAAAAAAGGTTGTTAAAACATGATGAGTCTTTCAACACCCCACTCCCCATAATTAAAACTCTGTAAACAAATGGGCAAGTGGAACCTCCCTTCTTTGGGGCTCAGTTTCCTCATCTACAAAAGGTCCCCTCTAAAGCCAAACTCTCTAGTTTCTATTTGAGAACTAAGCATCTGACTTCCTGGTCCCTAAGCCCTGATGATTTGTGCTAGGCTCTGTGGAAGGGACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCAN
|
pathogenic
| 339,824 |
The mutation in gene IDS at chromosome X, position 149500992—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
TTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTCCCTATTCAAGCCACAAGCCAAAGGCCAGAGCTCACAGTTTTCACTGTATTCTGAAATGGAAAGCTGTCAAGAACTTAGAACAATACCTTCCACCTCACTTCCAAATCCTCACCCTTCCCAACACGATGTTTACTAAAACCTCAGAGATACATTTCATGTCTCAGTTCCCTAGCTGGTTTTCTGAGTTTCTTAAATGTGGGTTTTAGTTTCATTTATACATTTGGGATTCCTCTAAACCAAGATTTTCTTTGTAGGTTACTTTTTTTCATAATGCTCTAAAAATTCAAAACCCCTATCAGAGGTCTCAGCTGCTGAACATACACATTAGGTCAGAGACAGATACACGGCATGCCTTTCTCCCATTCTGGGCTGAGGCTCCTGGAGCTCAGCCTCTTTTCTCCCTCCCATGTCTCAGCATCTCCTACAACTCTCAGTCTCATCCAGCGTGAGCACTGGGGAGCTATTCAATGAGTCTGACACGTTAGAGCCCAAGGTTTTAGAACAAGTAGCACCCACCAGCTTCTAGAATGAAGCCACTGCTCCTGTCGGGCCTAATGCTGAAGATCCCAACACTTACTTCTGTCAAAACATTATCACAAATGAAACCCACAACTTCGTGGTATATAACCAGCTTCACAGAACATGCAGTATACCCAGTAGTTTATGTGACAAAGGAAAAAGTGGTTCCTCTTCAGAAATGTCCCTTTCACAGCCTTACCTTAGTGTTTTCATACTTCTCAGAGGAAGGATGATAAGGTGGAAAAGACCAGCTATACGGAGAATCATCGGTATGGTTAGAAGATATCCCTTGGAAAAAAAAAAAGGTTGTTAAAACATGATGAGTCTTTCAACACCCCACTCCCCATAATTAAAACTCTGTAAACAAATGGGCAAGTGGAACCTCCCTTCTTTGGGGCTCAGTTTCCTCATCTACAAAAGGTCCCCTCTAAAGCCAAACTCTCTAGTTTCTATTTGAGAACTAAGCATCTGACTTCCTGGTCCCTAAGCCCTGATGATTTGTGCTAGGCTCTGTGGAAGGGACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCC
|
TTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTCCCTATTCAAGCCACAAGCCAAAGGCCAGAGCTCACAGTTTTCACTGTATTCTGAAATGGAAAGCTGTCAAGAACTTAGAACAATACCTTCCACCTCACTTCCAAATCCTCACCCTTCCCAACACGATGTTTACTAAAACCTCAGAGATACATTTCATGTCTCAGTTCCCTAGCTGGTTTTCTGAGTTTCTTAAATGTGGGTTTTAGTTTCATTTATACATTTGGGATTCCTCTAAACCAAGATTTTCTTTGTAGGTTACTTTTTTTCATAATGCTCTAAAAATTCAAAACCCCTATCAGAGGTCTCAGCTGCTGAACATACACATTAGGTCAGAGACAGATACACGGCATGCCTTTCTCCCATTCTGGGCTGAGGCTCCTGGAGCTCAGCCTCTTTTCTCCCTCCCATGTCTCAGCATCTCCTACAACTCTCAGTCTCATCCAGCGTGAGCACTGGGGAGCTATTCAATGAGTCTGACACGTTAGAGCCCAAGGTTTTAGAACAAGTAGCACCCACCAGCTTCTAGAATGAAGCCACTGCTCCTGTCGGGCCTAATGCTGAAGATCCCAACACTTACTTCTGTCAAAACATTATCACAAATGAAACCCACAACTTCGTGGTATATAACCAGCTTCACAGAACATGCAGTATACCCAGTAGTTTATGTGACAAAGGAAAAAGTGGTTCCTCTTCAGAAATGTCCCTTTCACAGCCTTACCTTAGTGTTTTCATACTTCTCAGAGGAAGGATGATAAGGTGGACCAGCTATACGGAGACCAGCTATACGGAGAATCATCGGTATGGTTAGAAGATATCCCTTGGAAAAAAAAAAAGGTTGTTAAAACATGATGAGTCTTTCAACACCCCACTCCCCATAATTAAAACTCTGTAAACAAATGGGCAAGTGGAACCTCCCTTCTTTGGGGCTCAGTTTCCTCATCTACAAAAGGTCCCCTCTAAAGCCAAACTCTCTAGTTTCTATTTGAGAACTAAGCATCTGACTTCCTGGTCCCTAAGCCCTGATGATTTGTGCTAGGCTCTGTGGAAGGGACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCAC
|
pathogenic
| 339,826 |
Is the chromosome X, position 149501042 variant in IDS clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
ACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTCCCTATTCAAGCCACAAGCCAAAGGCCAGAGCTCACAGTTTTCACTGTATTCTGAAATGGAAAGCTGTCAAGAACTTAGAACAATACCTTCCACCTCACTTCCAAATCCTCACCCTTCCCAACACGATGTTTACTAAAACCTCAGAGATACATTTCATGTCTCAGTTCCCTAGCTGGTTTTCTGAGTTTCTTAAATGTGGGTTTTAGTTTCATTTATACATTTGGGATTCCTCTAAACCAAGATTTTCTTTGTAGGTTACTTTTTTTCATAATGCTCTAAAAATTCAAAACCCCTATCAGAGGTCTCAGCTGCTGAACATACACATTAGGTCAGAGACAGATACACGGCATGCCTTTCTCCCATTCTGGGCTGAGGCTCCTGGAGCTCAGCCTCTTTTCTCCCTCCCATGTCTCAGCATCTCCTACAACTCTCAGTCTCATCCAGCGTGAGCACTGGGGAGCTATTCAATGAGTCTGACACGTTAGAGCCCAAGGTTTTAGAACAAGTAGCACCCACCAGCTTCTAGAATGAAGCCACTGCTCCTGTCGGGCCTAATGCTGAAGATCCCAACACTTACTTCTGTCAAAACATTATCACAAATGAAACCCACAACTTCGTGGTATATAACCAGCTTCACAGAACATGCAGTATACCCAGTAGTTTATGTGACAAAGGAAAAAGTGGTTCCTCTTCAGAAATGTCCCTTTCACAGCCTTACCTTAGTGTTTTCATACTTCTCAGAGGAAGGATGATAAGGTGGAAAAGACCAGCTATACGGAGAATCATCGGTATGGTTAGAAGATATCCCTTGGAAAAAAAAAAAGGTTGTTAAAACATGATGAGTCTTTCAACACCCCACTCCCCATAATTAAAACTCTGTAAACAAATGGGCAAGTGGAACCTCCCTTCTTTGGGGCTCAGTTTCCTCATCTACAAAAGGTCCCCTCTAAAGCCAAACTCTCTAGTTTCTATTTGAGAACTAAGCATCTGACTTCCTGGTCCCTAAGCCCTGATGATTTGTGCTAGGCTCTGTGGAAGGGACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTC
|
ACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGAATGAAGTACCAATTTATACTGTTATGTGGCTGAACCTCAAAAACATTATTCTAAGTGAAAGAAGCCAGAAACAAATGGCTACATAGTGTATGACTCTATTTATACCAAATGGACAAAATAGGCAAATCCATGGAGACCAAAAATAGTTCAGTTGTTGTCCCACGCTGGGTGCTGAGACAAAATGAGGAACGACTGGTAATGGGTACAGGGTTTCTTTTGAGAGCGATAAAAATGATCTAAGATCGATTTGGGTGATGGCTGCATAGCTCCGTGAGTATGCTAAAAACCATTAAATTATATACTTCAAAAGGGAGAGTTTTATGGTATATGAACTCTATTTTAATTAAAAATTTAAAAAGAAAAAAAAAACCCATTTCAAATTTCAAAGACAGGCTAAGGCTTGTAAGTGACAGGGTCCCAATCAACTTGATAAGGTGACAGTCCATGGAATTTCCAGAACTTCAGCTACACTAGGCACAGAATGAAACCTCCTGCTTTGCTTCCTAAAGTAGACATGCTGGCCGTGAGACCAAAGTTAGTTCTGACCATGATTTGTATACCACAAAGACCGAGGGGCTGTGTCAGCTGCTGTTCCATCTCAAAGAGTGTTGCCTTTTCACAGCCCTGCCTTGCTCACCCCACCCTTGGGCAGGACAGCCCAGCACCCGCCTCAGACCACTTGTTCATCATCTATATATACACGATTTGCAGCACTCGAGGGAGATTTAGTATTGTCAGACCCACCACTTTGAGAAGAAATGGGTAGGGGGCAGTTAGGGCAGGGACCTGGCATTCGTAAGTGAGGCCACTAAAAAGAAGCAAGATGGCTTCAGGGAATTAAGATGGGATCTTCCCTATTCAAGCCACAAGCCAAAGGCCAGAGCTCACAGTTTTCACTGTATTCTGAAATGGAAAGCTGTCAAGAACTTAGAACAATACCTTCCACCTCACTTCCAAATCCTCACCCTTCCCAACACGATGTTTACTAAAACCTCAGAGATACATTTCATGTCTCAGTTCCCTAGCTGGTTTTCTGAGTTTCTTAAATGTGGGTTTTAGTTTCATTTATACATTTGGGATTCCTCTAAACCAAGATTTTCTTTGTAGGTTACTTTTTTTCATAATGCTCTAAAAATTCAAAACCCCTATCAGAGGTCTCAGCTGCTGAACATACACATTAGGTCAGAGACAGATACACGGCATGCCTTTCTCCCATTCTGGGCTGAGGCTCCTGGAGCTCAGCCTCTTTTCTCCCTCCCATGTCTCAGCATCTCCTACAACTCTCAGTCTCATCCAGCGTGAGCACTGGGGAGCTATTCAATGAGTCTGACACGTTAGAGCCCAAGGTTTTAGAACAAGTAGCACCCACCAGCTTCTAGAATGAAGCCACTGCTCCTGTCGGGCCTAATGCTGAAGATCCCAACACTTACTTCTGTCAAAACATTATCACAAATGAAACCCACAACTTCGTGGTATATAACCAGCTTCACAGAACATGCAGTATACCCAGTAGTTTATGTGACAAAGGAAAAAGTGGTTCCTCTTCAGAAATGTCCCTTTCACAGCCTTACCTTAGTGTTTTCATACTTCTCAGAGGAAGGATGATAAGGTGGAAAAGACCAGCTATACGGAGAATCATCGGTATGGTTAGAAGATATCCCTTGGAAAAAAAAAAGGTTGTTAAAACATGATGAGTCTTTCAACACCCCACTCCCCATAATTAAAACTCTGTAAACAAATGGGCAAGTGGAACCTCCCTTCTTTGGGGCTCAGTTTCCTCATCTACAAAAGGTCCCCTCTAAAGCCAAACTCTCTAGTTTCTATTTGAGAACTAAGCATCTGACTTCCTGGTCCCTAAGCCCTGATGATTTGTGCTAGGCTCTGTGGAAGGGACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCN
|
benign
| 339,837 |
Gene IDS (iduronate 2-sulfatase) variant at chromosome position 149503318 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
GACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCG
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GACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGN
|
pathogenic
| 339,843 |
Chromosome X, position 149503324, gene IDS (iduronate 2-sulfatase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
CAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCC
|
CAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCNN
|
pathogenic
| 339,844 |
Does the variant impacting IDS (iduronate 2-sulfatase) on chromosome X, position 149503412, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
AGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCTGCAGCAATAGGCGTGGCCGAGAGACAGGCGCAGAGCGGGGGCGGGCCAGTTGCCTTGCAAGCTTCGCAGACCCAGCGGCCCGCAGGC
|
AGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGATTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCTGCAGCAATAGGCGTGGCCGAGAGACAGGCGCAGAGCGGGGGCGGGCCAGTTGCCTTGCAAGCTTCGCAGACCCAGCGGCCCGC
|
pathogenic
| 339,855 |
The mutation in gene IDS (iduronate 2-sulfatase) at chromosome X, position 149503442—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
TCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCTGCAGCAATAGGCGTGGCCGAGAGACAGGCGCAGAGCGGGGGCGGGCCAGTTGCCTTGCAAGCTTCGCAGACCCAGCGGCCCGCAGGCCCCTAGGTGTAGAACTGCTAGGGGTATAGC
|
TCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTGCCTATAGTGGTTAGCTGGGAGTGGAGGGGATCACAGGCAGAACCTCGTGAGAAAGCATCAGCAGCAGTCACACAGTGGGACTCCCATAGGGAGTACCAGAAGAGACAGGAATGGAGAGAAAGAGGGCAGCGGGTGGAGGGCCTATGAAGACAGCAAGCACTGTGGAAAGAGCACACAGGAAGCCAACAACCACAGGTCCAAATCCTGATGCTGCCTCTTAGCATCCTTGCAACCTCTGGCAAGCTACTTGACTCCCATGAGCCTTCATGTCTTCCTTGGGAAATGATGATGATGATAAAAACCCACCTTGCTTGCTGTTGGGAGGATTAAAGGAGTGGCCAGCATGGTAAACGGTACATACCTGGCACACAGTGGTGGCTACTGTCATCTTGAAGCAGGCCCAATGCTAACAGAAAAAGGTCTTGAGAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCTGCAGCAATAGGCGTGGCCGAGAGACAGGCGCAGAGCGGGGGCGGGCCAGTTGCCTTGCAAGCTTCGCAGACCCAGCGGCCCGCAGGCCCCTAGGTGTAGAACTGCTAGGGGTATAGCNNN
|
pathogenic
| 339,859 |
Is the genetic mutation found on chromosome X at position 149504188, within the gene IDS (iduronate 2-sulfatase), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
GAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCTGCAGCAATAGGCGTGGCCGAGAGACAGGCGCAGAGCGGGGGCGGGCCAGTTGCCTTGCAAGCTTCGCAGACCCAGCGGCCCGCAGGCCCCTAGGTGTAGAACTGCTAGGGGTATAGCGATTCAGCCACTGCCCTTAACAACTAGCAGTTACCCGTCTTTTTGCCTTTGCTTGTGCTATGCCTTTCACCTGGAAGCCCTGCCCTTCCTTCTTTTTATAAAAGACACACTTCTTGTAAGCCAGCCTCAATGCCATTCTCCTTCCATGAGGCCTTTTGAGAAAGTCCCTTCCTCCATCTAAAGGGACTCCCTTTCCTATTCATTTCTTCAACTAATTCTTATTAAGTATCGCAAATATGTATACCAGGCGCTGTTGGTGGCACTGGGGCTCTATGTCCCTGCTTTGGTGGAGCTTAAAACAATAAAAAAATATAGAGAGTGTCGGTGGGCATACCCGGTCTGGAGAAAAATAAAGCGTGGGTGCGGGGCATGCTTGTTATTTTCTATGGGGTGGCCAGGCAGGGCCTCACTAGTGAAGTGGCATTTGAACAAAATTTTGAAGCAAGTGAGGGAGCAAGCCGCATTGAGGTCTGCAAGAAGGGTGCGCCAAACAGAGAGAGCAGCAATTGTGGGGAGATGGAATCCTAGCCCTACACTGTACTGTACTGAATACTATTATACCGTCCTAATACTGCAAACACAGTTTGATTTTCAACTTTGAGAATCAATCTATAACAAAGCCCAGATGACTTAATTATGACTAAACAACAATGGACAATGGGAAGGTACAAATACAGCTGTGATGGTGCTGTGGTGCACTGCTCAGATCTCCCTTCAACACCAAAAATTTTATTTCCCTAGCTGGC
|
GAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCTGCAGCAATAGGCGTGGCCGAGAGACAGGCGCAGAGCGGGGGCGGGCCAGTTGCCTTGCAAGCTTCGCAGACCCAGCGGCCCGCAGGCCCCTAGGTGTAGAACTGCTAGGGGTATAGCGATTCAGCCACTGCCCTTAACAACTAGCAGTTACCCGTCTTTTTGCCTTTGCTTGTGCTATGCCTTTCACCTGGAAGCCCTGCCCTTCCTTCTTTTTATAAAAGACACACTTCTTGTAAGCCAGCCTCAATGCCATTCTCCTTCCATGAGGCCTTTTGAGAAAGTCCCTTCCTCCATCTAAAGGGACTCCCTTTCCTATTCATTTCTTCAACTAATTCTTATTAAGTATCGCAAATATGTATACCAGGCGCTGTTGGTGGCACTGGGGCTCTATGTCCCTGCTTTGGTGGAGCTTAAAACAATAAAAAAATATAGAGAGTGTCGGTGGGCATACCCGGTCTGGAGAAAAATAAAGCGTGGGTGCGGGGCATGCTTGTTATTTTCTATGGGGTGGCCAGGCAGGGCCTCACTAGTGAAGTGGCATTTGAACAAAATTTTGAAGCAAGTGAGGGAGCAAGCCGCATTGAGGTCTGCAAGAAGGGTGCGCCAAACAGAGAGAGCAGCAATTGTGGGGAGATGGAATCCTAGCCCTACACTGTACTGTACTGAATACTATTATACCGTCCTAATACTGCAAACACAGTTTGATTTTCAACTTTGAGAATCAATCTATAACAAAGCCCAGATGACTTAATTATGACTAAACAACAATGGACAATGGGAAGGTACAAATACAGCTGTGATGGTGCTGTGGTGCACTGCTCAGATCTCCCTTCAACACCAAAAATTTTATTTCCCTAGCTGG
|
pathogenic
| 339,884 |
Benign or pathogenic: chromosome X, position 149504274, gene IDS (iduronate 2-sulfatase) variant? Disease(s) if pathogenic?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
GGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCTGCAGCAATAGGCGTGGCCGAGAGACAGGCGCAGAGCGGGGGCGGGCCAGTTGCCTTGCAAGCTTCGCAGACCCAGCGGCCCGCAGGCCCCTAGGTGTAGAACTGCTAGGGGTATAGCGATTCAGCCACTGCCCTTAACAACTAGCAGTTACCCGTCTTTTTGCCTTTGCTTGTGCTATGCCTTTCACCTGGAAGCCCTGCCCTTCCTTCTTTTTATAAAAGACACACTTCTTGTAAGCCAGCCTCAATGCCATTCTCCTTCCATGAGGCCTTTTGAGAAAGTCCCTTCCTCCATCTAAAGGGACTCCCTTTCCTATTCATTTCTTCAACTAATTCTTATTAAGTATCGCAAATATGTATACCAGGCGCTGTTGGTGGCACTGGGGCTCTATGTCCCTGCTTTGGTGGAGCTTAAAACAATAAAAAAATATAGAGAGTGTCGGTGGGCATACCCGGTCTGGAGAAAAATAAAGCGTGGGTGCGGGGCATGCTTGTTATTTTCTATGGGGTGGCCAGGCAGGGCCTCACTAGTGAAGTGGCATTTGAACAAAATTTTGAAGCAAGTGAGGGAGCAAGCCGCATTGAGGTCTGCAAGAAGGGTGCGCCAAACAGAGAGAGCAGCAATTGTGGGGAGATGGAATCCTAGCCCTACACTGTACTGTACTGAATACTATTATACCGTCCTAATACTGCAAACACAGTTTGATTTTCAACTTTGAGAATCAATCTATAACAAAGCCCAGATGACTTAATTATGACTAAACAACAATGGACAATGGGAAGGTACAAATACAGCTGTGATGGTGCTGTGGTGCACTGCTCAGATCTCCCTTCAACACCAAAAATTTTATTTCCCTAGCTGGCTTGAGAGCTGTTAGCTGTCGTTAGCCCTCATCAGAAATTGTCTTAGAAAAAGATAGGTACCTCAGCCAAGGTCACCCCTGTTCTCA
|
GGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAAGCCTGCCGGTGTAACCACTGAGCAAAGGGAAAGAGACTGAAAACATTCGTCATTCCCAAATGATAAGCATTATTGTCCCTATGGTGCTCTTGTCTTCCAATACTTTTTTCTCCATTTTTTTTCTCAAATACTCATGCATTACTTCTATAAATAAAAAGTTTTAAAGTTTGTTTGCTTTTCACTATCCCCATATTGGCATTAAAGAGAGCCAGTTTATCAGGCAGCATTTGAGGTAAGGAATGTCCGTCTCTGGGACCCTATAGATCCTGGGTACCAGATTACACTCATCTTTCTGACTTAATTTCCAGAGTGGATAGCAGCCCCTACCTAAGCACAGCCCCCTCATTGGGCAATAAGTCAGCAACAGCAATGCTGGCCACACGGGAGGCCCTCAGGTGTCCTCACCCCACCCCTAGGTTTACTGACAGGTACCCTGCAGGGGAGAGGGTGGGGCCCTGAGCTGGACTCCACCCAACACTGCCACCTCCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCTGCAGCAATAGGCGTGGCCGAGAGACAGGCGCAGAGCGGGGGCGGGCCAGTTGCCTTGCAAGCTTCGCAGACCCAGCGGCCCGCAGGCCCCTAGGTGTAGAACTGCTAGGGGTATAGCGATTCAGCCACTGCCCTTAACAACTAGCAGTTACCCGTCTTTTTGCCTTTGCTTGTGCTATGCCTTTCACCTGGAAGCCCTGCCCTTCCTTCTTTTTATAAAAGACACACTTCTTGTAAGCCAGCCTCAATGCCATTCTCCTTCCATGAGGCCTTTTGAGAAAGTCCCTTCCTCCATCTAAAGGGACTCCCTTTCCTATTCATTTCTTCAACTAATTCTTATTAAGTATCGCAAATATGTATACCAGGCGCTGTTGGTGGCACTGGGGCTCTATGTCCCTGCTTTGGTGGAGCTTAAAACAATAAAAAAATATAGAGAGTGTCGGTGGGCATACCCGGTCTGGAGAAAAATAAAGCGTGGGTGCGGGGCATGCTTGTTATTTTCTATGGGGTGGCCAGGCAGGGCCTCACTAGTGAAGTGGCATTTGAACAAAATTTTGAAGCAAGTGAGGGAGCAAGCCGCATTGAGGTCTGCAAGAAGGGTGCGCCAAACAGAGAGAGCAGCAATTGTGGGGAGATGGAATCCTAGCCCTACACTGTACTGTACTGAATACTATTATACCGTCCTAATACTGCAAACACAGTTTGATTTTCAACTTTGAGAATCAATCTATAACAAAGCCCAGATGACTTAATTATGACTAAACAACAATGGACAATGGGAAGGTACAAATACAGCTGTGATGGTGCTGTGGTGCACTGCTCAGATCTCCCTTCAACACCAAAAATTTTATTTCCCTAGCTGGCTTGAGAGCTGTTAGCTGTCGTTAGCCCTCATCAGAAATTGTCTTAGAAAAAGATAGGTACCTCAGCCAAGGTCACCCCTGTTCTCANNN
|
pathogenic
| 339,896 |
Clinical significance of chromosome X, position 149505080, gene IDS: benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
CCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCTGCAGCAATAGGCGTGGCCGAGAGACAGGCGCAGAGCGGGGGCGGGCCAGTTGCCTTGCAAGCTTCGCAGACCCAGCGGCCCGCAGGCCCCTAGGTGTAGAACTGCTAGGGGTATAGCGATTCAGCCACTGCCCTTAACAACTAGCAGTTACCCGTCTTTTTGCCTTTGCTTGTGCTATGCCTTTCACCTGGAAGCCCTGCCCTTCCTTCTTTTTATAAAAGACACACTTCTTGTAAGCCAGCCTCAATGCCATTCTCCTTCCATGAGGCCTTTTGAGAAAGTCCCTTCCTCCATCTAAAGGGACTCCCTTTCCTATTCATTTCTTCAACTAATTCTTATTAAGTATCGCAAATATGTATACCAGGCGCTGTTGGTGGCACTGGGGCTCTATGTCCCTGCTTTGGTGGAGCTTAAAACAATAAAAAAATATAGAGAGTGTCGGTGGGCATACCCGGTCTGGAGAAAAATAAAGCGTGGGTGCGGGGCATGCTTGTTATTTTCTATGGGGTGGCCAGGCAGGGCCTCACTAGTGAAGTGGCATTTGAACAAAATTTTGAAGCAAGTGAGGGAGCAAGCCGCATTGAGGTCTGCAAGAAGGGTGCGCCAAACAGAGAGAGCAGCAATTGTGGGGAGATGGAATCCTAGCCCTACACTGTACTGTACTGAATACTATTATACCGTCCTAATACTGCAAACACAGTTTGATTTTCAACTTTGAGAATCAATCTATAACAAAGCCCAGATGACTTAATTATGACTAAACAACAATGGACAATGGGAAGGTACAAATACAGCTGTGATGGTGCTGTGGTGCACTGCTCAGATCTCCCTTCAACACCAAAAATTTTATTTCCCTAGCTGGCTTGAGAGCTGTTAGCTGTCGTTAGCCCTCATCAGAAATTGTCTTAGAAAAAGATAGGTACCTCAGCCAAGGTCACCCCTGTTCTCAGGAAGCCCACATCAGTGATTCAACTTGAAGGTACAAAGGTGCAGCCCCTTACCCCAACTTGGGACATCTCTGAAAGGCCATTTCAGCTTCAGAGCTCCCTGTGGGGTTAACTGAAGCCTTTTTTGAGACTGCCCACTTTCTCTGTCTGTTGAATTTTGATTTCTTCCCTCCCCTCCCCTTCTACAGGTGTTGATCCTAAGAGTACTCCCTAAGAAACTTCCTGCACATTACTCTACATCTTAGTCAGCTTCCTTGGGAACCTGGCCTGCAGCAACAGTTGACAAAAAGCTGGGAGGAGGAAGGGAGATGGCAGGAAATGTAGGCACATTAATTTAGGGTTAGCAATTTAGGATTGTCTCCTTTGCCCCAGCCTATCGCAAAAAAATAATAATAATAATAATAATAAATCAATAGTCGCTGTCCCCAGTTCATAGAAAGAGAAATACAGATTTAGGGATATTACTTAAAGATACAAAAGTAAACAATAGAAAACTTAAAAATGGCAATAAATCTATATAGTAAAAGGAGAAGGGAAAATGGCAGGGAGAGATGAAACAAAATTTGTCATGAGTTGATAACCAATGAAGTTCATTGATGAACACCTGGGGTTTATTATACTATTTTCTGTAATCTTGTATAGGTTTGATCAATTTCCAAAATCCAAGGTTAAAAATATGTACATAAAAAGAGGAATGGATAAGTGATCTCATCTATCATAGGAAGAAGTCAGCAATGTCTAAAGTTGAAAACATTAGAAAGTTGATATAGAAATAGCATAGTATTTAGAAAGACAGGGACAATCTACT
|
CCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCTGCAGCAATAGGCGTGGCCGAGAGACAGGCGCAGAGCGGGGGCGGGCCAGTTGCCTTGCAAGCTTCGCAGACCCAGCGGCCCGCAGGCCCCTAGGTGTAGAACTGCTAGGGGTATAGCGATTCAGCCACTGCCCTTAACAACTAGCAGTTACCCGTCTTTTTGCCTTTGCTTGTGCTATGCCTTTCACCTGGAAGCCCTGCCCTTCCTTCTTTTTATAAAAGACACACTTCTTGTAAGCCAGCCTCAATGCCATTCTCCTTCCATGAGGCCTTTTGAGAAAGTCCCTTCCTCCATCTAAAGGGACTCCCTTTCCTATTCATTTCTTCAACTAATTCTTATTAAGTATCGCAAATATGTATACCAGGCGCTGTTGGTGGCACTGGGGCTCTATGTCCCTGCTTTGGTGGAGCTTAAAACAATAAAAAAATATAGAGAGTGTCGGTGGGCATACCCGGTCTGGAGAAAAATAAAGCGTGGGTGCGGGGCATGCTTGTTATTTTCTATGGGGTGGCCAGGCAGGGCCTCACTAGTGAAGTGGCATTTGAACAAAATTTTGAAGCAAGTGAGGGAGCAAGCCGCATTGAGGTCTGCAAGAAGGGTGCGCCAAACAGAGAGAGCAGCAATTGTGGGGAGATGGAATCCTAGCCCTACACTGTACTGTACTGAATACTATTATACCGTCCTAATACTGCAAACACAGTTTGATTTTCAACTTTGAGAATCAATCTATAACAAAGCCCAGATGACTTAATTATGACTAAACAACAATGGACAATGGGAAGGTACAAATACAGCTGTGATGGTGCTGTGGTGCACTGCTCAGATCTCCCTTCAACACCAAAAATTTTATTTCCCTAGCTGGCTTGAGAGCTGTTAGCTGTCGTTAGCCCTCATCAGAAATTGTCTTAGAAAAAGATAGGTACCTCAGCCAAGGTCACCCCTGTTCTCAGGAAGCCCACATCAGTGATTCAACTTGAAGGTACAAAGGTGCAGCCCCTTACCCCAACTTGGGACATCTCTGAAAGGCCATTTCAGCTTCAGAGCTCCCTGTGGGGTTAACTGAAGCCTTTTTTGAGACTGCCCACTTTCTCTGTCTGTTGAATTTTGATTTCTTCCCTCCCCTCCCCTTCTACAGGTGTTGATCCTAAGAGTACTCCCTAAGAAACTTCCTGCACATTACTCTACATCTTAGTCAGCTTCCTTGGGAACCTGGCCTGCAGCAACAGTTGACAAAAAGCTGGGAGGAGGAAGGGAGATGGCAGGAAATGTAGGCACATTAATTTAGGGTTAGCAATTTAGGATTGTCTCCTTTGCCCCAGCCTATCGCAAAAAAATAATAATAATAATAATAATAAATCAATAGTCGCTGTCCCCAGTTCATAGAAAGAGAAATACAGATTTAGGGATATTACTTAAAGATACAAAAGTAAACAATAGAAAACTTAAAAATGGCAATAAATCTATATAGTAAAAGGAGAAGGGAAAATGGCAGGGAGAGATGAAACAAAATTTGTCATGAGTTGATAACCAATGAAGTTCATTGATGAACACCTGGGGTTTATTATACTATTTTCTGTAATCTTGTATAGGTTTGATCAATTTCCAAAATCCAAGGTTAAAAATATGTACATAAAAAGAGGAATGGATAAGTGATCTCATCTATCATAGGAAGAAGTCAGCAATGTCTAAAGTTGAAAACATTAGAAAGTTGATATAGAAATAGCATAGTATTTAGAAAGACAGGGACAATCTACTN
|
pathogenic
| 339,902 |
Variant in gene IDS, located at chromosome X position 149505100: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Mucopolysaccharidosis,_MPS-II']
|
ACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCTGCAGCAATAGGCGTGGCCGAGAGACAGGCGCAGAGCGGGGGCGGGCCAGTTGCCTTGCAAGCTTCGCAGACCCAGCGGCCCGCAGGCCCCTAGGTGTAGAACTGCTAGGGGTATAGCGATTCAGCCACTGCCCTTAACAACTAGCAGTTACCCGTCTTTTTGCCTTTGCTTGTGCTATGCCTTTCACCTGGAAGCCCTGCCCTTCCTTCTTTTTATAAAAGACACACTTCTTGTAAGCCAGCCTCAATGCCATTCTCCTTCCATGAGGCCTTTTGAGAAAGTCCCTTCCTCCATCTAAAGGGACTCCCTTTCCTATTCATTTCTTCAACTAATTCTTATTAAGTATCGCAAATATGTATACCAGGCGCTGTTGGTGGCACTGGGGCTCTATGTCCCTGCTTTGGTGGAGCTTAAAACAATAAAAAAATATAGAGAGTGTCGGTGGGCATACCCGGTCTGGAGAAAAATAAAGCGTGGGTGCGGGGCATGCTTGTTATTTTCTATGGGGTGGCCAGGCAGGGCCTCACTAGTGAAGTGGCATTTGAACAAAATTTTGAAGCAAGTGAGGGAGCAAGCCGCATTGAGGTCTGCAAGAAGGGTGCGCCAAACAGAGAGAGCAGCAATTGTGGGGAGATGGAATCCTAGCCCTACACTGTACTGTACTGAATACTATTATACCGTCCTAATACTGCAAACACAGTTTGATTTTCAACTTTGAGAATCAATCTATAACAAAGCCCAGATGACTTAATTATGACTAAACAACAATGGACAATGGGAAGGTACAAATACAGCTGTGATGGTGCTGTGGTGCACTGCTCAGATCTCCCTTCAACACCAAAAATTTTATTTCCCTAGCTGGCTTGAGAGCTGTTAGCTGTCGTTAGCCCTCATCAGAAATTGTCTTAGAAAAAGATAGGTACCTCAGCCAAGGTCACCCCTGTTCTCAGGAAGCCCACATCAGTGATTCAACTTGAAGGTACAAAGGTGCAGCCCCTTACCCCAACTTGGGACATCTCTGAAAGGCCATTTCAGCTTCAGAGCTCCCTGTGGGGTTAACTGAAGCCTTTTTTGAGACTGCCCACTTTCTCTGTCTGTTGAATTTTGATTTCTTCCCTCCCCTCCCCTTCTACAGGTGTTGATCCTAAGAGTACTCCCTAAGAAACTTCCTGCACATTACTCTACATCTTAGTCAGCTTCCTTGGGAACCTGGCCTGCAGCAACAGTTGACAAAAAGCTGGGAGGAGGAAGGGAGATGGCAGGAAATGTAGGCACATTAATTTAGGGTTAGCAATTTAGGATTGTCTCCTTTGCCCCAGCCTATCGCAAAAAAATAATAATAATAATAATAATAAATCAATAGTCGCTGTCCCCAGTTCATAGAAAGAGAAATACAGATTTAGGGATATTACTTAAAGATACAAAAGTAAACAATAGAAAACTTAAAAATGGCAATAAATCTATATAGTAAAAGGAGAAGGGAAAATGGCAGGGAGAGATGAAACAAAATTTGTCATGAGTTGATAACCAATGAAGTTCATTGATGAACACCTGGGGTTTATTATACTATTTTCTGTAATCTTGTATAGGTTTGATCAATTTCCAAAATCCAAGGTTAAAAATATGTACATAAAAAGAGGAATGGATAAGTGATCTCATCTATCATAGGAAGAAGTCAGCAATGTCTAAAGTTGAAAACATTAGAAAGTTGATATAGAAATAGCATAGTATTTAGAAAGACAGGGACAATCTACTAGAAGAAATGAAAGTAGAAA
|
ACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGGGGATGGTGGAGAAGTTTCCAGCGTGCACCCTCCAGTAGGAGTTGAAGTCGTACAGGCGGGTGGTGTCAGGTCTCCTGCCAGTGAGGAAAGAAACGCGGCTCGGGGCGCACACTGCTTGCTGTTAGGGAGCAGAAGCAGAGGTAAGCATCGCCACAGCAAAACATGTCTGCCATCTCTTAGGTAACCAAGCAACCGCCCTCCCGAGGCTCCTAGCAAACAGCTTGGTAGCTGAGTCATGCAGAGCTCAAACCAGACACTGGGATTTGGGTGTCACCTAGGCAACAGACTGCTTCCGGGAGAGAAAAGGGAAGCAATCAGCCCCTGAAACCAGCAGATGCTTATCTCCTCCTACGCAATGGCCTCCCCAGGCACACAGAGCGGCCAGTGTTGCTGGGGGCAGAGCCATGAGGGGGTTCAGGGAGCAGGGCCACCCTGGCTAGCTCTCACCTGAGGCCCAGCCTGCAGACCTGTGGGTGCCCTTCTGCAGCACCCCTTCCTTCTGAGCACCAGGCAAGCGCCCGTTCTGGGAGAAAGCTGGCCAGGGCTGCCATGAACACATCAGGGCCAGGGCGCACCTTGCACCCAAGGAGAAGGCCACCCTTGAAGGTCAAGCTTTCCCATGAGTGGAAAACCAGATTTTCTCCACTACCATTTTCCAGACTATGCTTCCCTCTAACAAGATGTCCCGCACAATCTGTGCCATCTGACAATAGCTGAAGCTCCCCGCCCCCAACCCTCAGTGCACGAAGCAGCACACACCCACAGCTAGAGGTTCCCAGACATACCTGCGCAAAGGCATTCTGGAAGAGGAGGCTGTGGGATGCCAGTTGGTCAATATTTGGGGACCTCACCAGCTTATCCCCATAACAGCCCAGGGAGGGGCGCAGGTCATCCACGATGATGAGAAGAACGTTCAGAGCATCTACACAGGAGGGAGGGGCTTTGGTGAGGTAACCTGCACTGACACTGAACCCTCCCTCATGGTAGGTGCTAGGTTACTAAGAGGCCCAAGGCTGGACCCTGCACCTTAACAGCCTAGCCAGGGAGGGCGCTGTGCCTCAGCAAGGGTGGGAGTGGGGCTCGAGGAGGAAGCCTGAGTCCTGGGTGGCAGGGTTAGGCTTTGGTCATGGCCTCCAACCTGGGTGAGGAAGCGAGATAGTGAGTGAAAGATGGTGGAAAGGAAAGATGAATTTAGGAAAAAAAGAGAATGATGTATGCAGGAAAGGACAGATGGTTGGATGGAGGAAGATAAGGAGGAAAAGATGAATAGCTGAAGGGAAGAAAGGATGGAGAGAAGGAGGGGAGAAGAGAGAGAAATATGAATGGATAGAAGGTAAAAGGGACGGATGGACCAATGGAGGGAGGAAAGGAGGGGGAAAGATGGATGGATAGAGATGGGAAAGATGGGGGGAAAGAGGAAGGGAAGCACGGAGGGATAGGAGATGGATGGATGAATAGATGGAAAGAGGGAAGGGAGGGATGAAGGGACGGTAGGAAGGAGTGAAAAATGGAGGGAGGGAACGAATGATGGATGAAAGAAGGAATGGTAGGAGAGAGGAAGGGTAAAAAGAATGGATATAAACAAAGAAGGAAGGAAAGAAGGAAGGAGGAAGGAAGGGAGGGAGGAAGGGAGAAGAGATGGCAGGGAGGGCGTGGGCGGCACCTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCTAGAGGTGCGCGTCATCCTGCAGCAATAGGCGTGGCCGAGAGACAGGCGCAGAGCGGGGGCGGGCCAGTTGCCTTGCAAGCTTCGCAGACCCAGCGGCCCGCAGGCCCCTAGGTGTAGAACTGCTAGGGGTATAGCGATTCAGCCACTGCCCTTAACAACTAGCAGTTACCCGTCTTTTTGCCTTTGCTTGTGCTATGCCTTTCACCTGGAAGCCCTGCCCTTCCTTCTTTTTATAAAAGACACACTTCTTGTAAGCCAGCCTCAATGCCATTCTCCTTCCATGAGGCCTTTTGAGAAAGTCCCTTCCTCCATCTAAAGGGACTCCCTTTCCTATTCATTTCTTCAACTAATTCTTATTAAGTATCGCAAATATGTATACCAGGCGCTGTTGGTGGCACTGGGGCTCTATGTCCCTGCTTTGGTGGAGCTTAAAACAATAAAAAAATATAGAGAGTGTCGGTGGGCATACCCGGTCTGGAGAAAAATAAAGCGTGGGTGCGGGGCATGCTTGTTATTTTCTATGGGGTGGCCAGGCAGGGCCTCACTAGTGAAGTGGCATTTGAACAAAATTTTGAAGCAAGTGAGGGAGCAAGCCGCATTGAGGTCTGCAAGAAGGGTGCGCCAAACAGAGAGAGCAGCAATTGTGGGGAGATGGAATCCTAGCCCTACACTGTACTGTACTGAATACTATTATACCGTCCTAATACTGCAAACACAGTTTGATTTTCAACTTTGAGAATCAATCTATAACAAAGCCCAGATGACTTAATTATGACTAAACAACAATGGACAATGGGAAGGTACAAATACAGCTGTGATGGTGCTGTGGTGCACTGCTCAGATCTCCCTTCAACACCAAAAATTTTATTTCCCTAGCTGGCTTGAGAGCTGTTAGCTGTCGTTAGCCCTCATCAGAAATTGTCTTAGAAAAAGATAGGTACCTCAGCCAAGGTCACCCCTGTTCTCAGGAAGCCCACATCAGTGATTCAACTTGAAGGTACAAAGGTGCAGCCCCTTACCCCAACTTGGGACATCTCTGAAAGGCCATTTCAGCTTCAGAGCTCCCTGTGGGGTTAACTGAAGCCTTTTTTGAGACTGCCCACTTTCTCTGTCTGTTGAATTTTGATTTCTTCCCTCCCCTCCCCTTCTACAGGTGTTGATCCTAAGAGTACTCCCTAAGAAACTTCCTGCACATTACTCTACATCTTAGTCAGCTTCCTTGGGAACCTGGCCTGCAGCAACAGTTGACAAAAAGCTGGGAGGAGGAAGGGAGATGGCAGGAAATGTAGGCACATTAATTTAGGGTTAGCAATTTAGGATTGTCTCCTTTGCCCCAGCCTATCGCAAAAAAATAATAATAATAATAATAATAAATCAATAGTCGCTGTCCCCAGTTCATAGAAAGAGAAATACAGATTTAGGGATATTACTTAAAGATACAAAAGTAAACAATAGAAAACTTAAAAATGGCAATAAATCTATATAGTAAAAGGAGAAGGGAAAATGGCAGGGAGAGATGAAACAAAATTTGTCATGAGTTGATAACCAATGAAGTTCATTGATGAACACCTGGGGTTTATTATACTATTTTCTGTAATCTTGTATAGGTTTGATCAATTTCCAAAATCCAAGGTTAAAAATATGTACATAAAAAGAGGAATGGATAAGTGATCTCATCTATCATAGGAAGAAGTCAGCAATGTCTAAAGTTGAAAACATTAGAAAGTTGATATAGAAATAGCATAGTATTTAGAAAGACAGGGACAATCTACTAGAAGAAATGAAAGTAGAAANNNNNNNNNNNNNNNN
|
pathogenic
| 339,904 |
Does the variant on chromosome X at location 150592682 affecting gene MTM1 (myotubularin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
GGATTTCGTCCTTTATATTCATTTTAAATTGAAATTTTTTCATGAAAATCAGAAATAGCAGGAAGACTCATCATTCTTTTATGGCCCATGAATAAACAGGGTGGTGACGTTGACTGAGTTGACTGTACAACCAGGATTTTAGATTTTTTCTACTGACTTGATAGTAAGAATTTAACTTTTTGTTTTAAAATGTTGACTTACATTAGTGAAGCATTTTAAATATTAAAGTATCTATACTAAAAGGTAGTTTTATATCTGTTACTGAAGAAAATCTGCCCCTAATATATAGTCTTGTTTTGTCAATAGAAAAATTTCAGAGCAGATACATCTGACTTGCTCCATAGTTCATCTCATCCATTCTGCTATCTCTGAGAATAATGGGTTATTTTGCTTGGACATGAACTTAAGGTTAGAAAGGTTTTTCAAAGCATATTTTACGATTTTGTCTGAATTTAATTCATTTTAGTGTTATTCATTAATCTTTTTAAAAAGTTACTTTTAATTTTGCATTGTGCTACCTGTAGGTAGTTTCAGCTCTTCTAAGTTGAGTATCTCTTTCTATAAAGACGTATTTTGCTCTAATTGTTAATTTTCAAGCATCAGTGGTAGTTGCCTAGTTCCAGTGTTCTGGGATTTGGTGAACTAGTATACATGTTTGCCCCATCATGACATTTCACAGTATTGTATATTTGCCGCATAATCATTCACCAGATAGTTGTGAGTTCCAGTGTGCGCCAGGATACAGCCACGAACCAGACAGACACAAGCCTTGGCCTTGTAGTGTTGAACTCTCACGGGGGAATCCTGACAGTCCTAACCTTGTAAGATGGCCCCTATCTGGCCATCTCCCCACCTCTTCATCCTGGTGGCTGTCTTTTTCTGTGACTTCGTCACCTTTCTTGACTATTTCTTAAGGACAGTAGCCAGTACTGTGAAGCTGTTAAATCCCACTAGATTTTGTGCCAAGGTGTGTTAACCCATTTATGCCTAGTGTTCCACTATTGGAACGCTAAGCTTGTGGGAGTTATTTACATCCTGCTGCTCAAGGTCATCACCAAGGTCTGATTTTTCACAAAAATAATTTGCAACCTCCGGCATAAATGGGTTAATGTTCTCCATTGCTGGATTTTGTTAGTGTGTCTGGTTGCTCTTAATACAGCCTGGCAAAAAGATATTTATAAATATCCACAGTCACCTTGTTGAATTGGATGTGGTTTACCTCCCGCTGACTTTATATGTATCTATCTGTGTCCTAAACTTTGATAAAATAACCAAAGCATTACTTAGTGTTCTGTTGTTGCTGTAATCTTCTTAAGTCTAAATAAATCCTTGCGTTAAAATGGTATTTGTGTATGTTCTGAATAGAATGCTTTCATTTATGCCTGAATTGTGATGAATATGCATTATTTAAATGAAGTATATACTTTCCCTAGAAAATACTGATTAAATCAAATCTTACCAATTTGATTTCAGTCAAATCCATGCCACTCTAAACTGCCATCATTTGGAGAAAACAAAATTCTTAATAGAGAAAATAGTGTGAGTTAAATTGTCCATTCTTTTTTCATTCTGCTCGGCTGCCTCTAAATTATCTTTAAAAAATAAGGAGTATGGAAATTTGAGGCCTGTTGCACAATTAATAAACATTAAGTTTTTTTAGATGGCAATTAGAGCACTACGAATTAAAATTCCTGGAATGTGTATGGCGTCTTCTGCTGAGCTCCCCCTTGTGCATTTAGCTCCCCTTGTCTGTTCTCCCCTAGTCCCCTGCACCTTTATTGGAGCTCTCACATACTGCCTGTGCTCTGGTTCATCGTTTGTATGTCTTATTACCACTGGGGCCTAGTATGGAAATAGAACCTGTAAAGTAGTACCGTTTGCTCTCAGTTGCCATATTTAAGTCTCAGATGTCACATATGTTTGAAATTGCATACAAATTCAGTTGATATTGAATGTTGTGTTTCTTGGTAGAGTTTCCAGGATGGCTTCTGCATCAACTTCTAAATATAATTCACACTCCTTGGAGAATGAGTCTATTAAGAGGGTAAGTTGAATTTTCAGATTTATCTGTCTCTTTCCTTGCATTTATTTTGATATTTGAATATTAGGTCATTTTGGGCTGGCCTATTGAATTATGAATTTTATTATTCATTCACATATAAATACATTTATACATGTGGTTTCTTTATTGTCTCACCTTGTTCTAGAAAAGCTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTCCGTAGCCCAGGTTGGAGTGCAGTGGCAAGATCTCAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGTGTGCTACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTTGTCTTGAACTCCTGACCTCAGGTGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTTACAGGAGTGAGCTACCACGCCGGCCCAGAAAAGCTTTTAGATACAATACCTTATATGTGTTAAGTGAGTTTTACATTTGTAAATCCTTTCACATAACTTCATTTTTGAAAACCTCTGTCTCGTGAAATTACTGCTAGACCTCATGTTTAAGGTACTAGGCAATCCTCCACCTGGAAAGGTTGCTGAAGGACATACTGGAAGGCTAAGGCCTGCTGAGCAGGCTGCTACGCCTTCCTAATTATTGGCATTATTTTCTAATTATGATAAAATTGTTGCATAACCAAAACAAATACAACTTTAACAGAAAATGGTTCAAGGTATCCAGGGGGAGATTGTGTAATTAGAGGGAGATTTTGGAATGTGCATTCAAAGGAAGGGATTAATTTAAAATAAGCTTTATTCATGGCCCTTTAAGGCCCTAAGATTATCCACCAGAAAGGCTAATTTATACTCCCACCAGGTGGATAGAGATGCCTAAGCAATCAGAAGGGAGCAAAAGGTGATCTTTTCATTGGTATTTCTTGATTACTAATGAGGTTAACCTTTTTTAAAAAAGTGTGTTTATGGTCAGGTGAGGTGGCTCATGCTTGTAATCCTAGCACTTTAGGAGGCCAAGGTGGGAGGATCACTTGAGCTCAAGAGTTCGAGACTGGCCTAGGCAACATAGTGAAACCCTGTCTCTACCAAAGATACAAAAAATTAGCCGAGTGTGATGGCGTGCGCCCATAGTTCCAACTACTCAGGAGGCTGAGGTGGGAGATTGTTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATCCTGTCTCAAATAAGTAAATAAAAGTGTGTTTGTTATTAGTTTGCATTTCTCTTGTGAAGTGATTGTTCATGTCCTTTATTTGGCTTTTGGGGATTTTGAGGGGAGTTCTTATTGATTATGTGTTCCGTGTGTGTGTGTATATGTGTATGTGTGTGTATAATTTTTTTTTGAGACAGAGTCTAACTCTGTCCCTCAGGCTGGAGTGCAGTGGTGCAATCCTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCATCACACCTGGCTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCATGCTGGTCTTGAACTCCTGGCCTCAAGCTATCCACCTGCCTTAGCCTCCCAAATTGCTGGGATTACAGGCATGGACCACCACACCTGGCTTGTTCCTTATATTTTGATAATCAGCTCTATAATATGTTACAAGTCTTCTTCCTGATTTATTGTTGGCCTTTTAATTGTATTTATGGTATTTTGATTTTGAAATACTGAAGTTTAAAGTTTTTATGTGATCACATATATCAATCTATATTTTCTGTTTTGGGTGCCTACAAGGACCATCCTCATCTCCAAGATTATATGTTTTTATTGTATTTAAGTATTTTTATGTTACCAGAATCAGTTCTAAACACAGGAGTAATTTCAAGAATGTAACTATAAATCCTTTGTGTAATGCTGCTCTGGTATAATGTATAGCCTATGTT
|
GGATTTCGTCCTTTATATTCATTTTAAATTGAAATTTTTTCATGAAAATCAGAAATAGCAGGAAGACTCATCATTCTTTTATGGCCCATGAATAAACAGGGTGGTGACGTTGACTGAGTTGACTGTACAACCAGGATTTTAGATTTTTTCTACTGACTTGATAGTAAGAATTTAACTTTTTGTTTTAAAATGTTGACTTACATTAGTGAAGCATTTTAAATATTAAAGTATCTATACTAAAAGGTAGTTTTATATCTGTTACTGAAGAAAATCTGCCCCTAATATATAGTCTTGTTTTGTCAATAGAAAAATTTCAGAGCAGATACATCTGACTTGCTCCATAGTTCATCTCATCCATTCTGCTATCTCTGAGAATAATGGGTTATTTTGCTTGGACATGAACTTAAGGTTAGAAAGGTTTTTCAAAGCATATTTTACGATTTTGTCTGAATTTAATTCATTTTAGTGTTATTCATTAATCTTTTTAAAAAGTTACTTTTAATTTTGCATTGTGCTACCTGTAGGTAGTTTCAGCTCTTCTAAGTTGAGTATCTCTTTCTATAAAGACGTATTTTGCTCTAATTGTTAATTTTCAAGCATCAGTGGTAGTTGCCTAGTTCCAGTGTTCTGGGATTTGGTGAACTAGTATACATGTTTGCCCCATCATGACATTTCACAGTATTGTATATTTGCCGCATAATCATTCACCAGATAGTTGTGAGTTCCAGTGTGCGCCAGGATACAGCCACGAACCAGACAGACACAAGCCTTGGCCTTGTAGTGTTGAACTCTCACGGGGGAATCCTGACAGTCCTAACCTTGTAAGATGGCCCCTATCTGGCCATCTCCCCACCTCTTCATCCTGGTGGCTGTCTTTTTCTGTGACTTCGTCACCTTTCTTGACTATTTCTTAAGGACAGTAGCCAGTACTGTGAAGCTGTTAAATCCCACTAGATTTTGTGCCAAGGTGTGTTAACCCATTTATGCCTAGTGTTCCACTATTGGAACGCTAAGCTTGTGGGAGTTATTTACATCCTGCTGCTCAAGGTCATCACCAAGGTCTGATTTTTCACAAAAATAATTTGCAACCTCCGGCATAAATGGGTTAATGTTCTCCATTGCTGGATTTTGTTAGTGTGTCTGGTTGCTCTTAATACAGCCTGGCAAAAAGATATTTATAAATATCCACAGTCACCTTGTTGAATTGGATGTGGTTTACCTCCCGCTGACTTTATATGTATCTATCTGTGTCCTAAACTTTGATAAAATAACCAAAGCATTACTTAGTGTTCTGTTGTTGCTGTAATCTTCTTAAGTCTAAATAAATCCTTGCGTTAAAATGGTATTTGTGTATGTTCTGAATAGAATGCTTTCATTTATGCCTGAATTGTGATGAATATGCATTATTTAAATGAAGTATATACTTTCCCTAGAAAATACTGATTAAATCAAATCTTACCAATTTGATTTCAGTCAAATCCATGCCACTCTAAACTGCCATCATTTGGAGAAAACAAAATTCTTAATAGAGAAAATAGTGTGAGTTAAATTGTCCATTCTTTTTTCATTCTGCTCGGCTGCCTCTAAATTATCTTTAAAAAATAAGGAGTATGGAAATTTGAGGCCTGTTGCACAATTAATAAACATTAAGTTTTTTTAGATGGCAATTAGAGCACTACGAATTAAAATTCCTGGAATGTGTATGGCGTCTTCTGCTGAGCTCCCCCTTGTGCATTTAGCTCCCCTTGTCTGTTCTCCCCTAGTCCCCTGCACCTTTATTGGAGCTCTCACATACTGCCTGTGCTCTGGTTCATCGTTTGTATGTCTTATTACCACTGGGGCCTAGTATGGAAATAGAACCTGTAAAGTAGTACCGTTTGCTCTCAGTTGCCATATTTAAGTCTCAGATGTCACATATGTTTGAAATTGCATACAAATTCAGTTGATATTGAATGTTGTGTTTCTTGGTAGAGTTTCCAGGATGGCTTCTGCATCAACTTCTAAATATAATTCACACTCCTTGGAGAATGAGTCTATTAAGAGGGTAAGTGAATTTTCAGATTTATCTGTCTCTTTCCTTGCATTTATTTTGATATTTGAATATTAGGTCATTTTGGGCTGGCCTATTGAATTATGAATTTTATTATTCATTCACATATAAATACATTTATACATGTGGTTTCTTTATTGTCTCACCTTGTTCTAGAAAAGCTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTCCGTAGCCCAGGTTGGAGTGCAGTGGCAAGATCTCAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGTGTGCTACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTTGTCTTGAACTCCTGACCTCAGGTGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTTACAGGAGTGAGCTACCACGCCGGCCCAGAAAAGCTTTTAGATACAATACCTTATATGTGTTAAGTGAGTTTTACATTTGTAAATCCTTTCACATAACTTCATTTTTGAAAACCTCTGTCTCGTGAAATTACTGCTAGACCTCATGTTTAAGGTACTAGGCAATCCTCCACCTGGAAAGGTTGCTGAAGGACATACTGGAAGGCTAAGGCCTGCTGAGCAGGCTGCTACGCCTTCCTAATTATTGGCATTATTTTCTAATTATGATAAAATTGTTGCATAACCAAAACAAATACAACTTTAACAGAAAATGGTTCAAGGTATCCAGGGGGAGATTGTGTAATTAGAGGGAGATTTTGGAATGTGCATTCAAAGGAAGGGATTAATTTAAAATAAGCTTTATTCATGGCCCTTTAAGGCCCTAAGATTATCCACCAGAAAGGCTAATTTATACTCCCACCAGGTGGATAGAGATGCCTAAGCAATCAGAAGGGAGCAAAAGGTGATCTTTTCATTGGTATTTCTTGATTACTAATGAGGTTAACCTTTTTTAAAAAAGTGTGTTTATGGTCAGGTGAGGTGGCTCATGCTTGTAATCCTAGCACTTTAGGAGGCCAAGGTGGGAGGATCACTTGAGCTCAAGAGTTCGAGACTGGCCTAGGCAACATAGTGAAACCCTGTCTCTACCAAAGATACAAAAAATTAGCCGAGTGTGATGGCGTGCGCCCATAGTTCCAACTACTCAGGAGGCTGAGGTGGGAGATTGTTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCTCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATCCTGTCTCAAATAAGTAAATAAAAGTGTGTTTGTTATTAGTTTGCATTTCTCTTGTGAAGTGATTGTTCATGTCCTTTATTTGGCTTTTGGGGATTTTGAGGGGAGTTCTTATTGATTATGTGTTCCGTGTGTGTGTGTATATGTGTATGTGTGTGTATAATTTTTTTTTGAGACAGAGTCTAACTCTGTCCCTCAGGCTGGAGTGCAGTGGTGCAATCCTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCATCACACCTGGCTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCATGCTGGTCTTGAACTCCTGGCCTCAAGCTATCCACCTGCCTTAGCCTCCCAAATTGCTGGGATTACAGGCATGGACCACCACACCTGGCTTGTTCCTTATATTTTGATAATCAGCTCTATAATATGTTACAAGTCTTCTTCCTGATTTATTGTTGGCCTTTTAATTGTATTTATGGTATTTTGATTTTGAAATACTGAAGTTTAAAGTTTTTATGTGATCACATATATCAATCTATATTTTCTGTTTTGGGTGCCTACAAGGACCATCCTCATCTCCAAGATTATATGTTTTTATTGTATTTAAGTATTTTTATGTTACCAGAATCAGTTCTAAACACAGGAGTAATTTCAAGAATGTAACTATAAATCCTTTGTGTAATGCTGCTCTGGTATAATGTATAGCCTATGTTN
|
benign
| 339,925 |
Is chromosome X, position 150596546, gene MTM1 (myotubularin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
TTTTGATTTTGAAATACTGAAGTTTAAAGTTTTTATGTGATCACATATATCAATCTATATTTTCTGTTTTGGGTGCCTACAAGGACCATCCTCATCTCCAAGATTATATGTTTTTATTGTATTTAAGTATTTTTATGTTACCAGAATCAGTTCTAAACACAGGAGTAATTTCAAGAATGTAACTATAAATCCTTTGTGTAATGCTGCTCTGGTATAATGTATAGCCTATGTTAATCCCATGTTATCCTGTTTTAATCAGACATTCACTTCCCTTATTTTGTGGTTGACCTAGAACTGTGGTATTTAAAAGGTATACTGAGTATTGCATTTGCTCGTTATGCCTGTTTTTAGTTAGTGAGAGGGAGTGTTAAAGGGTGATAATTTCTTTCCTCTCTTACAATTTATATAAGGTGTGTGGTTTTGCTTCTCATTGAGGAAGGCATTCCTGGCTGAGAACAGTTTGTCTTGCCCAGCTGGTTAAAATGTTTAGCTTGCAAGTACTAGAAAATTTTTTAAATTGGCTAGGAATTTTCATTCTTGCCTCTGAATGAAAAAAAAAAACATTAAAGATTCAGCATAACACCCCTCTTTGACAGCTTATATCTCACCTGAATATACAATTCACATTTCTCTTGTTTCATAATAATTCTCTCCATTTGCATAGCCTCTGATAATTTACAGAAGTGTGCACAGTAGCTCACACCTGTAATCCCAGCACTTTGGAAGGTCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTCAAAATGCAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGACCGAGGCATGAGAATCTCTTGAACCTGGGAGCTGGGAGGCAGACGTTGCAGTAAGCCAAGATTGCACCACTGTTGCCTGGCAACAGAGCAAGACTGTCTCAAAAAATAAAAGTGTGCTTGTATATATATTTTTTCACTTAATACTCACAAAACTGCTCTAACGGAAGCATGAGTAACTTCACTTATGAAATGATTGCAGTGTGATTTTGGACAACAAATAGAAAAAAATGAAATACTGCTGAAAAAAACTTTTTGCCCAAACAGATGTTAGTGATGTGCCTCAAATGTCATCAGACTAGCACCTGCAACACATCTTCGTATTAATCCACTAGGGCAGCTGAATAACCTGAAAGACAATGGGTAGCTATGGCAAATTAGGCTCTGCGAACTCGCCTGCAGGTTGTAGTGGTTAATATTACTGTGCCCACCTAGCAGAGCTGTGGAAGTGATTGAATGAGGCACATGCTTGGGAATACCTCTAAAGCCAGGAAGCCTAGAGAAATAGTAAAGTGATGTGAAGAATTTGTACAAATGGCTCCTAAGACTTTTGCCAGCTCAAAAGTTCTCTGACAGACCACTCTTACCTCTTATTAGGACAGGGATCTTAGTAAATGTGAGGAAGTAAAAAGAGAGGAAGGGTCTTAGTGAAATAGGAAACGCAATAGGTAATCAATGATTTTCGGGCATTGTAATAGGATTCTGGCTAATGGCTGTGCTGTTATTCAGTTAAGCCTCTGTGGAATTGAAGTTTTCCTTCCTACTCTTCCCAAAAGATGGCTGAATATGAAAAAAAGAAAGCTGCTACAGTGTATGTGTATCTATAGAACACACTTAATGTTTACTTTTTATCACTTTCCCGAAAGCTGTTAACTTTAAAGTGCTTGGAAATGTAGTTTAAAAATTAATATTATTGAAAAGCATGCTAGCATTATTTAATACTAGAAGTTGACACATCTAATTAATGTTGGTGCCAGATTGTAACTTTTTTGTTTGAATTTTTGTGCCAGTTTTCCCAAATGCTAAATCTCTAATGCTTTTTCTTTAAAAAACATATTTCTAGTGGCTTGTATTCCTAGTTGCTTAAAAACAGTGTGTAAATGTAACGTCATTACTTCTGATGCATCTGTTTTGTTTCTAGACGTCTCGAGATGGAGTCAATCGAGATCTCACTGAGGCTGTTCCTCGACTTCCAGGAGAAACACTAATCACTGGTAAGGACCTGCTGACATAAGATTTGCATAACTTGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGATAAACTTAAAGGCTTGAAGGCTTAATCATTCTCCTCTTTGAAATATAGGAGAACATATTGCTTTAAAATATCTTTCATTCGTCAGAAAATGGAAGTTAGTATTTAGGTAATATTTTGATGTTATTTTTCATGATAAACGTATACTAAAAGGAAGGGATCAACTTTGGAAGGGCTAGATCACTACGGCTTAAGAATATAGAAGCATCTGACAGCTTCTAAGCCAAGTGCTAATGTTCTGGGCAAATTTTATATGTGGATTAACACCCTCCTTTCAGACTTCAATGTATTTGAAGCAGATGTGATGACCATTGTTCCAGGGAACCTTTTGATTAATTCAGATCTGGGTTGTTTAGCTTAAATGGCTAAAACCTCGTGCTAATTAGATGGCGGGCCTAAGCGAGGTACCTTTGGGAATTAGCCATACACCATGAGAAATTCTCTTCTGAGTCCACAAACTTGCACACATTCTAGTCTTGAAATGGAGACCAGTGGGATGTGTTCATCCCAATTTCTGGATAAGAGCAAAGAAGATATTTTACTTTTGATCGTCTTCATATATGAAGTTTTGGTGGTAGGTATCAGCGCCTGAACCTTAACCCAGGTGGTAACTAATGGAACTAGCATAAAGTAGCTTTATTAAGTATTTTTTATTTAGAACTTGAAGAGAAAGGGATTTCAAAATCATTACGAGTCATTAACACATTCAAGGACATCCCTGAAAGATGAGAGGCATATTTCTATTATAATTAATTATTCTGATTTAGCTTCTCCTTATGTTTATTCTACCAAAGATGTACTATTCTTTCGGCCACCTGTTTTATATCACTTCAGTGTTTGAAATGAACCTAGCCAAACTCTATTCTAGACTATTAAAAAGAAAAAGGTTTGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAAGTAGGAGGATCACTTGAGGCCAGGAATTGGAGACCAGCCTGGGCAACACAGCAAAACTTCATCTTTACTAAAAATTAAAAAACGAGCTGGGTGCAGTGGCGCATACCCATAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGAGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGAACTCCAGCTTGGGCAATAGAGCAAGACCCTATCTCAAAAACAAAAAAAGACAGAATAAACTGGAAAGATTTCTACTGCTGACATTTATTTATTAAAAACATGATTATGTTTCTGTGGTTAGAGATTGGTAGCCTCATCTCTCAGTCTAGTGGTTAGTCCGTGAGACTGTCCCAGGTGAGTTGCCGTCCTCTGGCTGAAGTAGCTCAAATAGTTACCTTTACAACCACCTTAGGGTAGCAGCAGCAGTATTCTCATTCACTTCTATTGTCACCTTGCCCCAGGTAGTGACAGCATTGTGGGAAAGCTCAGGGAAGCACTGTTAGTGCCTGGAGGTGGTGTGGCCCCACTAGTTCTCCCACTACCCCAACTCAACCCAGCACGGTAATGTAGAAACATTGCCAGTGCTTGCTTTCAGCCTTTTCAGTAATTTTTAAAATTGTAGTTATTCTTAGCTGAATAGTTTATATTAAATTAGTGCCATTTGTTGTGTATCTTGGTATCTATTTCCATTATTTTAGGGTACTTTTTTTATCTTAATAGAC
|
TTTTGATTTTGAAATACTGAAGTTTAAAGTTTTTATGTGATCACATATATCAATCTATATTTTCTGTTTTGGGTGCCTACAAGGACCATCCTCATCTCCAAGATTATATGTTTTTATTGTATTTAAGTATTTTTATGTTACCAGAATCAGTTCTAAACACAGGAGTAATTTCAAGAATGTAACTATAAATCCTTTGTGTAATGCTGCTCTGGTATAATGTATAGCCTATGTTAATCCCATGTTATCCTGTTTTAATCAGACATTCACTTCCCTTATTTTGTGGTTGACCTAGAACTGTGGTATTTAAAAGGTATACTGAGTATTGCATTTGCTCGTTATGCCTGTTTTTAGTTAGTGAGAGGGAGTGTTAAAGGGTGATAATTTCTTTCCTCTCTTACAATTTATATAAGGTGTGTGGTTTTGCTTCTCATTGAGGAAGGCATTCCTGGCTGAGAACAGTTTGTCTTGCCCAGCTGGTTAAAATGTTTAGCTTGCAAGTACTAGAAAATTTTTTAAATTGGCTAGGAATTTTCATTCTTGCCTCTGAATGAAAAAAAAAAACATTAAAGATTCAGCATAACACCCCTCTTTGACAGCTTATATCTCACCTGAATATACAATTCACATTTCTCTTGTTTCATAATAATTCTCTCCATTTGCATAGCCTCTGATAATTTACAGAAGTGTGCACAGTAGCTCACACCTGTAATCCCAGCACTTTGGAAGGTCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTCAAAATGCAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGGAGACCGAGGCATGAGAATCTCTTGAACCTGGGAGCTGGGAGGCAGACGTTGCAGTAAGCCAAGATTGCACCACTGTTGCCTGGCAACAGAGCAAGACTGTCTCAAAAAATAAAAGTGTGCTTGTATATATATTTTTTCACTTAATACTCACAAAACTGCTCTAACGGAAGCATGAGTAACTTCACTTATGAAATGATTGCAGTGTGATTTTGGACAACAAATAGAAAAAAATGAAATACTGCTGAAAAAAACTTTTTGCCCAAACAGATGTTAGTGATGTGCCTCAAATGTCATCAGACTAGCACCTGCAACACATCTTCGTATTAATCCACTAGGGCAGCTGAATAACCTGAAAGACAATGGGTAGCTATGGCAAATTAGGCTCTGCGAACTCGCCTGCAGGTTGTAGTGGTTAATATTACTGTGCCCACCTAGCAGAGCTGTGGAAGTGATTGAATGAGGCACATGCTTGGGAATACCTCTAAAGCCAGGAAGCCTAGAGAAATAGTAAAGTGATGTGAAGAATTTGTACAAATGGCTCCTAAGACTTTTGCCAGCTCAAAAGTTCTCTGACAGACCACTCTTACCTCTTATTAGGACAGGGATCTTAGTAAATGTGAGGAAGTAAAAAGAGAGGAAGGGTCTTAGTGAAATAGGAAACGCAATAGGTAATCAATGATTTTCGGGCATTGTAATAGGATTCTGGCTAATGGCTGTGCTGTTATTCAGTTAAGCCTCTGTGGAATTGAAGTTTTCCTTCCTACTCTTCCCAAAAGATGGCTGAATATGAAAAAAAGAAAGCTGCTACAGTGTATGTGTATCTATAGAACACACTTAATGTTTACTTTTTATCACTTTCCCGAAAGCTGTTAACTTTAAAGTGCTTGGAAATGTAGTTTAAAAATTAATATTATTGAAAAGCATGCTAGCATTATTTAATACTAGAAGTTGACACATCTAATTAATGTTGGTGCCAGATTGTAACTTTTTTGTTTGAATTTTTGTGCCAGTTTTCCCAAATGCTAAATCTCTAATGCTTTTTCTTTAAAAAACATATTTCTAGTGGCTTGTATTCCTAGTTGCTTAAAAACAGTGTGTAAATGTAACGTCATTACTTCTGATGCATCTGTTTTGTTTCTAGACGTCTCGAGATGGAGTCAATCGAGATCTCACTGAGGCTGTTCCTCGACTCCAGGAGAAACACTAATCACTGGTAAGGACCTGCTGACATAAGATTTGCATAACTTGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGATAAACTTAAAGGCTTGAAGGCTTAATCATTCTCCTCTTTGAAATATAGGAGAACATATTGCTTTAAAATATCTTTCATTCGTCAGAAAATGGAAGTTAGTATTTAGGTAATATTTTGATGTTATTTTTCATGATAAACGTATACTAAAAGGAAGGGATCAACTTTGGAAGGGCTAGATCACTACGGCTTAAGAATATAGAAGCATCTGACAGCTTCTAAGCCAAGTGCTAATGTTCTGGGCAAATTTTATATGTGGATTAACACCCTCCTTTCAGACTTCAATGTATTTGAAGCAGATGTGATGACCATTGTTCCAGGGAACCTTTTGATTAATTCAGATCTGGGTTGTTTAGCTTAAATGGCTAAAACCTCGTGCTAATTAGATGGCGGGCCTAAGCGAGGTACCTTTGGGAATTAGCCATACACCATGAGAAATTCTCTTCTGAGTCCACAAACTTGCACACATTCTAGTCTTGAAATGGAGACCAGTGGGATGTGTTCATCCCAATTTCTGGATAAGAGCAAAGAAGATATTTTACTTTTGATCGTCTTCATATATGAAGTTTTGGTGGTAGGTATCAGCGCCTGAACCTTAACCCAGGTGGTAACTAATGGAACTAGCATAAAGTAGCTTTATTAAGTATTTTTTATTTAGAACTTGAAGAGAAAGGGATTTCAAAATCATTACGAGTCATTAACACATTCAAGGACATCCCTGAAAGATGAGAGGCATATTTCTATTATAATTAATTATTCTGATTTAGCTTCTCCTTATGTTTATTCTACCAAAGATGTACTATTCTTTCGGCCACCTGTTTTATATCACTTCAGTGTTTGAAATGAACCTAGCCAAACTCTATTCTAGACTATTAAAAAGAAAAAGGTTTGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAAGTAGGAGGATCACTTGAGGCCAGGAATTGGAGACCAGCCTGGGCAACACAGCAAAACTTCATCTTTACTAAAAATTAAAAAACGAGCTGGGTGCAGTGGCGCATACCCATAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGAGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGAACTCCAGCTTGGGCAATAGAGCAAGACCCTATCTCAAAAACAAAAAAAGACAGAATAAACTGGAAAGATTTCTACTGCTGACATTTATTTATTAAAAACATGATTATGTTTCTGTGGTTAGAGATTGGTAGCCTCATCTCTCAGTCTAGTGGTTAGTCCGTGAGACTGTCCCAGGTGAGTTGCCGTCCTCTGGCTGAAGTAGCTCAAATAGTTACCTTTACAACCACCTTAGGGTAGCAGCAGCAGTATTCTCATTCACTTCTATTGTCACCTTGCCCCAGGTAGTGACAGCATTGTGGGAAAGCTCAGGGAAGCACTGTTAGTGCCTGGAGGTGGTGTGGCCCCACTAGTTCTCCCACTACCCCAACTCAACCCAGCACGGTAATGTAGAAACATTGCCAGTGCTTGCTTTCAGCCTTTTCAGTAATTTTTAAAATTGTAGTTATTCTTAGCTGAATAGTTTATATTAAATTAGTGCCATTTGTTGTGTATCTTGGTATCTATTTCCATTATTTTAGGGTACTTTTTTTATCTTAATAGACN
|
pathogenic
| 339,929 |
Does the variant impacting MTM1 (myotubularin 1) on chromosome X, position 150598574, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
TCACTGAGGCTGTTCCTCGACTTCCAGGAGAAACACTAATCACTGGTAAGGACCTGCTGACATAAGATTTGCATAACTTGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGATAAACTTAAAGGCTTGAAGGCTTAATCATTCTCCTCTTTGAAATATAGGAGAACATATTGCTTTAAAATATCTTTCATTCGTCAGAAAATGGAAGTTAGTATTTAGGTAATATTTTGATGTTATTTTTCATGATAAACGTATACTAAAAGGAAGGGATCAACTTTGGAAGGGCTAGATCACTACGGCTTAAGAATATAGAAGCATCTGACAGCTTCTAAGCCAAGTGCTAATGTTCTGGGCAAATTTTATATGTGGATTAACACCCTCCTTTCAGACTTCAATGTATTTGAAGCAGATGTGATGACCATTGTTCCAGGGAACCTTTTGATTAATTCAGATCTGGGTTGTTTAGCTTAAATGGCTAAAACCTCGTGCTAATTAGATGGCGGGCCTAAGCGAGGTACCTTTGGGAATTAGCCATACACCATGAGAAATTCTCTTCTGAGTCCACAAACTTGCACACATTCTAGTCTTGAAATGGAGACCAGTGGGATGTGTTCATCCCAATTTCTGGATAAGAGCAAAGAAGATATTTTACTTTTGATCGTCTTCATATATGAAGTTTTGGTGGTAGGTATCAGCGCCTGAACCTTAACCCAGGTGGTAACTAATGGAACTAGCATAAAGTAGCTTTATTAAGTATTTTTTATTTAGAACTTGAAGAGAAAGGGATTTCAAAATCATTACGAGTCATTAACACATTCAAGGACATCCCTGAAAGATGAGAGGCATATTTCTATTATAATTAATTATTCTGATTTAGCTTCTCCTTATGTTTATTCTACCAAAGATGTACTATTCTTTCGGCCACCTGTTTTATATCACTTCAGTGTTTGAAATGAACCTAGCCAAACTCTATTCTAGACTATTAAAAAGAAAAAGGTTTGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAAGTAGGAGGATCACTTGAGGCCAGGAATTGGAGACCAGCCTGGGCAACACAGCAAAACTTCATCTTTACTAAAAATTAAAAAACGAGCTGGGTGCAGTGGCGCATACCCATAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGAGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGAACTCCAGCTTGGGCAATAGAGCAAGACCCTATCTCAAAAACAAAAAAAGACAGAATAAACTGGAAAGATTTCTACTGCTGACATTTATTTATTAAAAACATGATTATGTTTCTGTGGTTAGAGATTGGTAGCCTCATCTCTCAGTCTAGTGGTTAGTCCGTGAGACTGTCCCAGGTGAGTTGCCGTCCTCTGGCTGAAGTAGCTCAAATAGTTACCTTTACAACCACCTTAGGGTAGCAGCAGCAGTATTCTCATTCACTTCTATTGTCACCTTGCCCCAGGTAGTGACAGCATTGTGGGAAAGCTCAGGGAAGCACTGTTAGTGCCTGGAGGTGGTGTGGCCCCACTAGTTCTCCCACTACCCCAACTCAACCCAGCACGGTAATGTAGAAACATTGCCAGTGCTTGCTTTCAGCCTTTTCAGTAATTTTTAAAATTGTAGTTATTCTTAGCTGAATAGTTTATATTAAATTAGTGCCATTTGTTGTGTATCTTGGTATCTATTTCCATTATTTTAGGGTACTTTTTTTATCTTAATAGACAAAGAAGTTATTTACATATGTCCTTTCAATGGCCCCATTAAGGGAAGAGTTTACATCACAAATTATCGTCTTTATTTAAGAAGTTTGGAAACGGTAAGTAGAATATAAGACCATAAAGATGACCCTAACTGTTAAAGATAATGCTAAATTGTTTCTCTTCTACTTTGCAAGATTGACTGTGGGTCAAATTAACATGGGGTATATTTGCTTCTCAACTCTTAATTTTTTGCTTATGCAAAACTCATTTAACACTAACACTTGTATATGTAAGGAACAGGGTCAATTAAAAAAAGTCTTATCCCTCATAATGGTGGGGGAGGGGTTAGTAATTGTAACCATTTGCTAGTTTGGAGAAGTTAGGTGTAGAACAGTGGTTCTTTGCCAGAAGCACATATGAAACCCACTTATGGAGCTTAACAACACAGTATCCATAAAAGTTAAAAATAAAAAAATACAGATGTCCTGGATAGACTGCATCAGAATATCCAGACCTGTGGTCCTGGCACAGTTATATTTTCTAAAATATCACAGAGGAAGATAGTGATGTGAATTTCTGGGTGAAGCCCAGCATTCTAGAACTTTTCCAGGTGTTCAATGATAAAGCACCAGGTAGCAGTGTAGAACTAGGATGACTATGGTATGGCTTACTGCCACTCTACCTTTTCAATCCCTGACCATGAAAGGTTTGTCACAGCATTTTGAGGAATGTTCCATCACTAGGACAATAACATGGAAAAGAGATGCCCCAGAAAGGGAAGAGAGAGTGAGTAGCTGCTGTGGCTGTCACTGAAGGACTTCCAGTGGATGTGGTGGGTTGTCATTGCCCAGGTCAGCCTGAAGGGGAGGTATATTTTGATAGGATGTGAATGGGGAAAGAGGTCCAGGGTTCACAGAGAGTAGCCCATCAGCAGCTTCTACACAGGTGACCTTGAGGCTGTCGGGGAAATGTAGCTTTTTTATTGCTTTTACCCCACCATTTTTTAGGACAGTTCTAATCTAGATTAGTTTGTATCTTTTAATCTTTTTTTCTTTTATGGTGTTCATTATTATGTCTGAATTCTGAAAAAATGCTGTTTATTATCCCCATTGCCTTAGCTGTGGGAGCCCACTTTTATAGCTGCCCCAACTTCTGGAATCTCCTCTGGCACAGTGCTTGTAGGGACATGTACATGGATCAGGCCACAGGGCATTTTATTTATGTGACTCTGTTCAAACTTTTAAGTAAGAGTGGAGATGAGTGAATGTTCTAGATTTCCAGAATGGGAAAGAAGATTCTGAAAATTAACAACAGCGAGCTGCATGTTCACCCTTGGCAACAATTGGCAAAAATTCTACAAATAATCATTTTAAACATGATTTTTAAGTCCTTAGAAAAGAAACCAACCATTGGGAGTGTTATTGACACATTGTCTTGATGGAACCAAGGCCATATGACAGACTCCGGTAAAGACACCTGGGCCAAATGGTGGCAGTACACTTAGGTGGAGTTACAGCCTATGGATTTCAGGCTTAATGCTAGGAAGGGTGGTCGCTAACATCTTGCTGTGTAGGGCCCTTCCTTTCCAGCATTTCTGATGCAATGCAGAGGAGCACATAGAAGACATGCATTTCCAATGTATGAAAAACCCCATACTAGCCAATGTGTGCTAGGTGATGGGATCAGGGTTTGAAATGATCTTAACTTGGTAGGATATTGGAGCAAAACTAATAATATAAAATTGATATAGATAACAATTACTCAGTTGTTATCAGTAAAGGATAGGAGGTCTGTCTTAACGGATCCAAGCTTATTTGAACCAGTAATTGGATATGACTGATTAAAAAGTTAATATTCCCCTAGGCTGAGTTAACAGAAGTATAACATAATTGCCAGACAAAATGTAACAATAGCCCCATCTGAAGTGTTGTATTCCAAGCCAGATGCCAAGTTTTAAGAGGGACATTAACAAACTGAAGAGAGTTCAGACACAGATAACCAGGTTAGTGAAGGGACTGCAGTTGGAGCAGTGATCAAAATAAATGCTGATC
|
TCACTGAGGCTGTTCCTCGACTTCCAGGAGAAACACTAATCACTGGTAAGGACCTGCTGACATAAGATTTGCATAACTTGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGATAAACTTAAAGGCTTGAAGGCTTAATCATTCTCCTCTTTGAAATATAGGAGAACATATTGCTTTAAAATATCTTTCATTCGTCAGAAAATGGAAGTTAGTATTTAGGTAATATTTTGATGTTATTTTTCATGATAAACGTATACTAAAAGGAAGGGATCAACTTTGGAAGGGCTAGATCACTACGGCTTAAGAATATAGAAGCATCTGACAGCTTCTAAGCCAAGTGCTAATGTTCTGGGCAAATTTTATATGTGGATTAACACCCTCCTTTCAGACTTCAATGTATTTGAAGCAGATGTGATGACCATTGTTCCAGGGAACCTTTTGATTAATTCAGATCTGGGTTGTTTAGCTTAAATGGCTAAAACCTCGTGCTAATTAGATGGCGGGCCTAAGCGAGGTACCTTTGGGAATTAGCCATACACCATGAGAAATTCTCTTCTGAGTCCACAAACTTGCACACATTCTAGTCTTGAAATGGAGACCAGTGGGATGTGTTCATCCCAATTTCTGGATAAGAGCAAAGAAGATATTTTACTTTTGATCGTCTTCATATATGAAGTTTTGGTGGTAGGTATCAGCGCCTGAACCTTAACCCAGGTGGTAACTAATGGAACTAGCATAAAGTAGCTTTATTAAGTATTTTTTATTTAGAACTTGAAGAGAAAGGGATTTCAAAATCATTACGAGTCATTAACACATTCAAGGACATCCCTGAAAGATGAGAGGCATATTTCTATTATAATTAATTATTCTGATTTAGCTTCTCCTTATGTTTATTCTACCAAAGATGTACTATTCTTTCGGCCACCTGTTTTATATCACTTCAGTGTTTGAAATGAACCTAGCCAAACTCTATTCTAGACTATTAAAAAGAAAAAGGTTTGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAAGTAGGAGGATCACTTGAGGCCAGGAATTGGAGACCAGCCTGGGCAACACAGCAAAACTTCATCTTTACTAAAAATTAAAAAACGAGCTGGGTGCAGTGGCGCATACCCATAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGAGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGAACTCCAGCTTGGGCAATAGAGCAAGACCCTATCTCAAAAACAAAAAAAGACAGAATAAACTGGAAAGATTTCTACTGCTGACATTTATTTATTAAAAACATGATTATGTTTCTGTGGTTAGAGATTGGTAGCCTCATCTCTCAGTCTAGTGGTTAGTCCGTGAGACTGTCCCAGGTGAGTTGCCGTCCTCTGGCTGAAGTAGCTCAAATAGTTACCTTTACAACCACCTTAGGGTAGCAGCAGCAGTATTCTCATTCACTTCTATTGTCACCTTGCCCCAGGTAGTGACAGCATTGTGGGAAAGCTCAGGGAAGCACTGTTAGTGCCTGGAGGTGGTGTGGCCCCACTAGTTCTCCCACTACCCCAACTCAACCCAGCACGGTAATGTAGAAACATTGCCAGTGCTTGCTTTCAGCCTTTTCAGTAATTTTTAAAATTGTAGTTATTCTTAGCTGAATAGTTTATATTAAATTAGTGCCATTTGTTGTGTATCTTGGTATCTATTTCCATTATTTTAGGGTACTTTTTTTTATCTTAATAGACAAAGAAGTTATTTACATATGTCCTTTCAATGGCCCCATTAAGGGAAGAGTTTACATCACAAATTATCGTCTTTATTTAAGAAGTTTGGAAACGGTAAGTAGAATATAAGACCATAAAGATGACCCTAACTGTTAAAGATAATGCTAAATTGTTTCTCTTCTACTTTGCAAGATTGACTGTGGGTCAAATTAACATGGGGTATATTTGCTTCTCAACTCTTAATTTTTTGCTTATGCAAAACTCATTTAACACTAACACTTGTATATGTAAGGAACAGGGTCAATTAAAAAAAGTCTTATCCCTCATAATGGTGGGGGAGGGGTTAGTAATTGTAACCATTTGCTAGTTTGGAGAAGTTAGGTGTAGAACAGTGGTTCTTTGCCAGAAGCACATATGAAACCCACTTATGGAGCTTAACAACACAGTATCCATAAAAGTTAAAAATAAAAAAATACAGATGTCCTGGATAGACTGCATCAGAATATCCAGACCTGTGGTCCTGGCACAGTTATATTTTCTAAAATATCACAGAGGAAGATAGTGATGTGAATTTCTGGGTGAAGCCCAGCATTCTAGAACTTTTCCAGGTGTTCAATGATAAAGCACCAGGTAGCAGTGTAGAACTAGGATGACTATGGTATGGCTTACTGCCACTCTACCTTTTCAATCCCTGACCATGAAAGGTTTGTCACAGCATTTTGAGGAATGTTCCATCACTAGGACAATAACATGGAAAAGAGATGCCCCAGAAAGGGAAGAGAGAGTGAGTAGCTGCTGTGGCTGTCACTGAAGGACTTCCAGTGGATGTGGTGGGTTGTCATTGCCCAGGTCAGCCTGAAGGGGAGGTATATTTTGATAGGATGTGAATGGGGAAAGAGGTCCAGGGTTCACAGAGAGTAGCCCATCAGCAGCTTCTACACAGGTGACCTTGAGGCTGTCGGGGAAATGTAGCTTTTTTATTGCTTTTACCCCACCATTTTTTAGGACAGTTCTAATCTAGATTAGTTTGTATCTTTTAATCTTTTTTTCTTTTATGGTGTTCATTATTATGTCTGAATTCTGAAAAAATGCTGTTTATTATCCCCATTGCCTTAGCTGTGGGAGCCCACTTTTATAGCTGCCCCAACTTCTGGAATCTCCTCTGGCACAGTGCTTGTAGGGACATGTACATGGATCAGGCCACAGGGCATTTTATTTATGTGACTCTGTTCAAACTTTTAAGTAAGAGTGGAGATGAGTGAATGTTCTAGATTTCCAGAATGGGAAAGAAGATTCTGAAAATTAACAACAGCGAGCTGCATGTTCACCCTTGGCAACAATTGGCAAAAATTCTACAAATAATCATTTTAAACATGATTTTTAAGTCCTTAGAAAAGAAACCAACCATTGGGAGTGTTATTGACACATTGTCTTGATGGAACCAAGGCCATATGACAGACTCCGGTAAAGACACCTGGGCCAAATGGTGGCAGTACACTTAGGTGGAGTTACAGCCTATGGATTTCAGGCTTAATGCTAGGAAGGGTGGTCGCTAACATCTTGCTGTGTAGGGCCCTTCCTTTCCAGCATTTCTGATGCAATGCAGAGGAGCACATAGAAGACATGCATTTCCAATGTATGAAAAACCCCATACTAGCCAATGTGTGCTAGGTGATGGGATCAGGGTTTGAAATGATCTTAACTTGGTAGGATATTGGAGCAAAACTAATAATATAAAATTGATATAGATAACAATTACTCAGTTGTTATCAGTAAAGGATAGGAGGTCTGTCTTAACGGATCCAAGCTTATTTGAACCAGTAATTGGATATGACTGATTAAAAAGTTAATATTCCCCTAGGCTGAGTTAACAGAAGTATAACATAATTGCCAGACAAAATGTAACAATAGCCCCATCTGAAGTGTTGTATTCCAAGCCAGATGCCAAGTTTTAAGAGGGACATTAACAAACTGAAGAGAGTTCAGACACAGATAACCAGGTTAGTGAAGGGACTGCAGTTGGAGCAGTGATCAAAATAAATGCTGAT
|
benign
| 339,931 |
A genetic variant on chromosome X, position 150598593, affects the gene MTM1 (myotubularin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Centronuclear_myopathy', 'MTM1-related_disorder', 'Severe_X-linked_myotubular_myopathy']
|
ACTTCCAGGAGAAACACTAATCACTGGTAAGGACCTGCTGACATAAGATTTGCATAACTTGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGATAAACTTAAAGGCTTGAAGGCTTAATCATTCTCCTCTTTGAAATATAGGAGAACATATTGCTTTAAAATATCTTTCATTCGTCAGAAAATGGAAGTTAGTATTTAGGTAATATTTTGATGTTATTTTTCATGATAAACGTATACTAAAAGGAAGGGATCAACTTTGGAAGGGCTAGATCACTACGGCTTAAGAATATAGAAGCATCTGACAGCTTCTAAGCCAAGTGCTAATGTTCTGGGCAAATTTTATATGTGGATTAACACCCTCCTTTCAGACTTCAATGTATTTGAAGCAGATGTGATGACCATTGTTCCAGGGAACCTTTTGATTAATTCAGATCTGGGTTGTTTAGCTTAAATGGCTAAAACCTCGTGCTAATTAGATGGCGGGCCTAAGCGAGGTACCTTTGGGAATTAGCCATACACCATGAGAAATTCTCTTCTGAGTCCACAAACTTGCACACATTCTAGTCTTGAAATGGAGACCAGTGGGATGTGTTCATCCCAATTTCTGGATAAGAGCAAAGAAGATATTTTACTTTTGATCGTCTTCATATATGAAGTTTTGGTGGTAGGTATCAGCGCCTGAACCTTAACCCAGGTGGTAACTAATGGAACTAGCATAAAGTAGCTTTATTAAGTATTTTTTATTTAGAACTTGAAGAGAAAGGGATTTCAAAATCATTACGAGTCATTAACACATTCAAGGACATCCCTGAAAGATGAGAGGCATATTTCTATTATAATTAATTATTCTGATTTAGCTTCTCCTTATGTTTATTCTACCAAAGATGTACTATTCTTTCGGCCACCTGTTTTATATCACTTCAGTGTTTGAAATGAACCTAGCCAAACTCTATTCTAGACTATTAAAAAGAAAAAGGTTTGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAAGTAGGAGGATCACTTGAGGCCAGGAATTGGAGACCAGCCTGGGCAACACAGCAAAACTTCATCTTTACTAAAAATTAAAAAACGAGCTGGGTGCAGTGGCGCATACCCATAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGAGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGAACTCCAGCTTGGGCAATAGAGCAAGACCCTATCTCAAAAACAAAAAAAGACAGAATAAACTGGAAAGATTTCTACTGCTGACATTTATTTATTAAAAACATGATTATGTTTCTGTGGTTAGAGATTGGTAGCCTCATCTCTCAGTCTAGTGGTTAGTCCGTGAGACTGTCCCAGGTGAGTTGCCGTCCTCTGGCTGAAGTAGCTCAAATAGTTACCTTTACAACCACCTTAGGGTAGCAGCAGCAGTATTCTCATTCACTTCTATTGTCACCTTGCCCCAGGTAGTGACAGCATTGTGGGAAAGCTCAGGGAAGCACTGTTAGTGCCTGGAGGTGGTGTGGCCCCACTAGTTCTCCCACTACCCCAACTCAACCCAGCACGGTAATGTAGAAACATTGCCAGTGCTTGCTTTCAGCCTTTTCAGTAATTTTTAAAATTGTAGTTATTCTTAGCTGAATAGTTTATATTAAATTAGTGCCATTTGTTGTGTATCTTGGTATCTATTTCCATTATTTTAGGGTACTTTTTTTATCTTAATAGACAAAGAAGTTATTTACATATGTCCTTTCAATGGCCCCATTAAGGGAAGAGTTTACATCACAAATTATCGTCTTTATTTAAGAAGTTTGGAAACGGTAAGTAGAATATAAGACCATAAAGATGACCCTAACTGTTAAAGATAATGCTAAATTGTTTCTCTTCTACTTTGCAAGATTGACTGTGGGTCAAATTAACATGGGGTATATTTGCTTCTCAACTCTTAATTTTTTGCTTATGCAAAACTCATTTAACACTAACACTTGTATATGTAAGGAACAGGGTCAATTAAAAAAAGTCTTATCCCTCATAATGGTGGGGGAGGGGTTAGTAATTGTAACCATTTGCTAGTTTGGAGAAGTTAGGTGTAGAACAGTGGTTCTTTGCCAGAAGCACATATGAAACCCACTTATGGAGCTTAACAACACAGTATCCATAAAAGTTAAAAATAAAAAAATACAGATGTCCTGGATAGACTGCATCAGAATATCCAGACCTGTGGTCCTGGCACAGTTATATTTTCTAAAATATCACAGAGGAAGATAGTGATGTGAATTTCTGGGTGAAGCCCAGCATTCTAGAACTTTTCCAGGTGTTCAATGATAAAGCACCAGGTAGCAGTGTAGAACTAGGATGACTATGGTATGGCTTACTGCCACTCTACCTTTTCAATCCCTGACCATGAAAGGTTTGTCACAGCATTTTGAGGAATGTTCCATCACTAGGACAATAACATGGAAAAGAGATGCCCCAGAAAGGGAAGAGAGAGTGAGTAGCTGCTGTGGCTGTCACTGAAGGACTTCCAGTGGATGTGGTGGGTTGTCATTGCCCAGGTCAGCCTGAAGGGGAGGTATATTTTGATAGGATGTGAATGGGGAAAGAGGTCCAGGGTTCACAGAGAGTAGCCCATCAGCAGCTTCTACACAGGTGACCTTGAGGCTGTCGGGGAAATGTAGCTTTTTTATTGCTTTTACCCCACCATTTTTTAGGACAGTTCTAATCTAGATTAGTTTGTATCTTTTAATCTTTTTTTCTTTTATGGTGTTCATTATTATGTCTGAATTCTGAAAAAATGCTGTTTATTATCCCCATTGCCTTAGCTGTGGGAGCCCACTTTTATAGCTGCCCCAACTTCTGGAATCTCCTCTGGCACAGTGCTTGTAGGGACATGTACATGGATCAGGCCACAGGGCATTTTATTTATGTGACTCTGTTCAAACTTTTAAGTAAGAGTGGAGATGAGTGAATGTTCTAGATTTCCAGAATGGGAAAGAAGATTCTGAAAATTAACAACAGCGAGCTGCATGTTCACCCTTGGCAACAATTGGCAAAAATTCTACAAATAATCATTTTAAACATGATTTTTAAGTCCTTAGAAAAGAAACCAACCATTGGGAGTGTTATTGACACATTGTCTTGATGGAACCAAGGCCATATGACAGACTCCGGTAAAGACACCTGGGCCAAATGGTGGCAGTACACTTAGGTGGAGTTACAGCCTATGGATTTCAGGCTTAATGCTAGGAAGGGTGGTCGCTAACATCTTGCTGTGTAGGGCCCTTCCTTTCCAGCATTTCTGATGCAATGCAGAGGAGCACATAGAAGACATGCATTTCCAATGTATGAAAAACCCCATACTAGCCAATGTGTGCTAGGTGATGGGATCAGGGTTTGAAATGATCTTAACTTGGTAGGATATTGGAGCAAAACTAATAATATAAAATTGATATAGATAACAATTACTCAGTTGTTATCAGTAAAGGATAGGAGGTCTGTCTTAACGGATCCAAGCTTATTTGAACCAGTAATTGGATATGACTGATTAAAAAGTTAATATTCCCCTAGGCTGAGTTAACAGAAGTATAACATAATTGCCAGACAAAATGTAACAATAGCCCCATCTGAAGTGTTGTATTCCAAGCCAGATGCCAAGTTTTAAGAGGGACATTAACAAACTGAAGAGAGTTCAGACACAGATAACCAGGTTAGTGAAGGGACTGCAGTTGGAGCAGTGATCAAAATAAATGCTGATCTTGTCTGAAGAAAAGATGA
|
ACTTCCAGGAGAAACACTAATCACTGGTAAGGACCTGCTGACATAAGATTTGCATAACTTGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCATGGTTTAAGGTTTTAAGAGCAAAATGATTTCCAGTCAATGATGCATGCTTTAAAATGATAAACTTAAAGGCTTGAAGGCTTAATCATTCTCCTCTTTGAAATATAGGAGAACATATTGCTTTAAAATATCTTTCATTCGTCAGAAAATGGAAGTTAGTATTTAGGTAATATTTTGATGTTATTTTTCATGATAAACGTATACTAAAAGGAAGGGATCAACTTTGGAAGGGCTAGATCACTACGGCTTAAGAATATAGAAGCATCTGACAGCTTCTAAGCCAAGTGCTAATGTTCTGGGCAAATTTTATATGTGGATTAACACCCTCCTTTCAGACTTCAATGTATTTGAAGCAGATGTGATGACCATTGTTCCAGGGAACCTTTTGATTAATTCAGATCTGGGTTGTTTAGCTTAAATGGCTAAAACCTCGTGCTAATTAGATGGCGGGCCTAAGCGAGGTACCTTTGGGAATTAGCCATACACCATGAGAAATTCTCTTCTGAGTCCACAAACTTGCACACATTCTAGTCTTGAAATGGAGACCAGTGGGATGTGTTCATCCCAATTTCTGGATAAGAGCAAAGAAGATATTTTACTTTTGATCGTCTTCATATATGAAGTTTTGGTGGTAGGTATCAGCGCCTGAACCTTAACCCAGGTGGTAACTAATGGAACTAGCATAAAGTAGCTTTATTAAGTATTTTTTATTTAGAACTTGAAGAGAAAGGGATTTCAAAATCATTACGAGTCATTAACACATTCAAGGACATCCCTGAAAGATGAGAGGCATATTTCTATTATAATTAATTATTCTGATTTAGCTTCTCCTTATGTTTATTCTACCAAAGATGTACTATTCTTTCGGCCACCTGTTTTATATCACTTCAGTGTTTGAAATGAACCTAGCCAAACTCTATTCTAGACTATTAAAAAGAAAAAGGTTTGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAAGTAGGAGGATCACTTGAGGCCAGGAATTGGAGACCAGCCTGGGCAACACAGCAAAACTTCATCTTTACTAAAAATTAAAAAACGAGCTGGGTGCAGTGGCGCATACCCATAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGAGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGAACTCCAGCTTGGGCAATAGAGCAAGACCCTATCTCAAAAACAAAAAAAGACAGAATAAACTGGAAAGATTTCTACTGCTGACATTTATTTATTAAAAACATGATTATGTTTCTGTGGTTAGAGATTGGTAGCCTCATCTCTCAGTCTAGTGGTTAGTCCGTGAGACTGTCCCAGGTGAGTTGCCGTCCTCTGGCTGAAGTAGCTCAAATAGTTACCTTTACAACCACCTTAGGGTAGCAGCAGCAGTATTCTCATTCACTTCTATTGTCACCTTGCCCCAGGTAGTGACAGCATTGTGGGAAAGCTCAGGGAAGCACTGTTAGTGCCTGGAGGTGGTGTGGCCCCACTAGTTCTCCCACTACCCCAACTCAACCCAGCACGGTAATGTAGAAACATTGCCAGTGCTTGCTTTCAGCCTTTTCAGTAATTTTTAAAATTGTAGTTATTCTTAGCTGAATAGTTTATATTAAATTAGTGCCATTTGTTGTGTATCTTGGTATCTATTTCCATTATTTTAGGGTACTTTTTTTATCTTAATAGACAAGTTATTTACATATGTCCTTTCAATGGCCCCATTAAGGGAAGAGTTTACATCACAAATTATCGTCTTTATTTAAGAAGTTTGGAAACGGTAAGTAGAATATAAGACCATAAAGATGACCCTAACTGTTAAAGATAATGCTAAATTGTTTCTCTTCTACTTTGCAAGATTGACTGTGGGTCAAATTAACATGGGGTATATTTGCTTCTCAACTCTTAATTTTTTGCTTATGCAAAACTCATTTAACACTAACACTTGTATATGTAAGGAACAGGGTCAATTAAAAAAAGTCTTATCCCTCATAATGGTGGGGGAGGGGTTAGTAATTGTAACCATTTGCTAGTTTGGAGAAGTTAGGTGTAGAACAGTGGTTCTTTGCCAGAAGCACATATGAAACCCACTTATGGAGCTTAACAACACAGTATCCATAAAAGTTAAAAATAAAAAAATACAGATGTCCTGGATAGACTGCATCAGAATATCCAGACCTGTGGTCCTGGCACAGTTATATTTTCTAAAATATCACAGAGGAAGATAGTGATGTGAATTTCTGGGTGAAGCCCAGCATTCTAGAACTTTTCCAGGTGTTCAATGATAAAGCACCAGGTAGCAGTGTAGAACTAGGATGACTATGGTATGGCTTACTGCCACTCTACCTTTTCAATCCCTGACCATGAAAGGTTTGTCACAGCATTTTGAGGAATGTTCCATCACTAGGACAATAACATGGAAAAGAGATGCCCCAGAAAGGGAAGAGAGAGTGAGTAGCTGCTGTGGCTGTCACTGAAGGACTTCCAGTGGATGTGGTGGGTTGTCATTGCCCAGGTCAGCCTGAAGGGGAGGTATATTTTGATAGGATGTGAATGGGGAAAGAGGTCCAGGGTTCACAGAGAGTAGCCCATCAGCAGCTTCTACACAGGTGACCTTGAGGCTGTCGGGGAAATGTAGCTTTTTTATTGCTTTTACCCCACCATTTTTTAGGACAGTTCTAATCTAGATTAGTTTGTATCTTTTAATCTTTTTTTCTTTTATGGTGTTCATTATTATGTCTGAATTCTGAAAAAATGCTGTTTATTATCCCCATTGCCTTAGCTGTGGGAGCCCACTTTTATAGCTGCCCCAACTTCTGGAATCTCCTCTGGCACAGTGCTTGTAGGGACATGTACATGGATCAGGCCACAGGGCATTTTATTTATGTGACTCTGTTCAAACTTTTAAGTAAGAGTGGAGATGAGTGAATGTTCTAGATTTCCAGAATGGGAAAGAAGATTCTGAAAATTAACAACAGCGAGCTGCATGTTCACCCTTGGCAACAATTGGCAAAAATTCTACAAATAATCATTTTAAACATGATTTTTAAGTCCTTAGAAAAGAAACCAACCATTGGGAGTGTTATTGACACATTGTCTTGATGGAACCAAGGCCATATGACAGACTCCGGTAAAGACACCTGGGCCAAATGGTGGCAGTACACTTAGGTGGAGTTACAGCCTATGGATTTCAGGCTTAATGCTAGGAAGGGTGGTCGCTAACATCTTGCTGTGTAGGGCCCTTCCTTTCCAGCATTTCTGATGCAATGCAGAGGAGCACATAGAAGACATGCATTTCCAATGTATGAAAAACCCCATACTAGCCAATGTGTGCTAGGTGATGGGATCAGGGTTTGAAATGATCTTAACTTGGTAGGATATTGGAGCAAAACTAATAATATAAAATTGATATAGATAACAATTACTCAGTTGTTATCAGTAAAGGATAGGAGGTCTGTCTTAACGGATCCAAGCTTATTTGAACCAGTAATTGGATATGACTGATTAAAAAGTTAATATTCCCCTAGGCTGAGTTAACAGAAGTATAACATAATTGCCAGACAAAATGTAACAATAGCCCCATCTGAAGTGTTGTATTCCAAGCCAGATGCCAAGTTTTAAGAGGGACATTAACAAACTGAAGAGAGTTCAGACACAGATAACCAGGTTAGTGAAGGGACTGCAGTTGGAGCAGTGATCAAAATAAATGCTGATCTTGTCTGAAGAAAAGATGANNNN
|
pathogenic
| 339,932 |
For chromosome X, position 150614694, gene MTM1 (myotubularin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
ACCAGCCTGGACAACATAGTAAGACTCTGTCTCTACAAAAAACTTTTAAAAAATTTGGCTGGGCATGGTGGCTCATGCTTATAATCCTAGAACTTTGGGAGGCCGAGGCAGGTGTATTACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCATCTAAAAAAAAAAAAAAATTAAGTGTGGCTGGTGGTGTGTGCCTGTGGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGACGTCAAGGCTGCAGTGAGCCACTGTACTCCAGCCTGAGCAACAGAGCAAGAACTTATCTCTTAAAAAAAAAAAAAAAGGGGGGAAAGAAAAGAAAAACTTTGTAGCCCCAAAAGGTTTTTAAAGAACAAAAAACCAAATAACCCTTAAAAATTTTTTTTCTTTATTTTTCAAACTTATCTATCACAATATGAAAGAAAAGTTTGGATTAAAAATGGTGTAGCCCTTCATGTCTTTGTCCCTGTAAATAGATATTTCATGTTATTGTAGTCACCGTGTGTGTTGTATGCTGCTGTTTCCCACTTAAACTTACTTTTCCATGTACCATAATTATTTTAAAAACTGTATACTTGTTCCAGCGAGTTGAGTATAATTTTTTCTACCCTGTTATCTACCTCTAGCTCCATTGAACATCTTCCTTCTGTTAAGTGATAGCCATAAGTTCTTAGTAGCGAAATTATTGGATCAAAGAGTAGGACAATTTTTATGGCACTTTTAATGTGTGTTTTCAGGCATTGCCTCGAGTCTCAACCCTGCCCTATACTTACTAAACAAGTTATTGAAGCTTTGAAAAACTTAGGAAATGGGGATACTTCACCTATATCCTGGAACGGTTGTGAGGATAAAATGAGATGATGCGTGCAAAGCCCCTAATGTAGTACCTGGCACAGAAGAGAGGTATTTCCTACATGGCAGCTGCTGTGATGATCTCCTGGTGATGATTGTGCTATTACTTGACTAACATGATTCCATCATGCCAGCAGTCTTCTAGACCACTTGCACCCAGCGTTGGATAGCAAATGATGGAGAAGCCTTGCTGTGCATTAAGGCCCTTCTGCTTTGGGAAATGCACGCATGCCAGAGACAAGCACCATTTCCAGATGCTTGGTCTCTAGTGGGGGAATACATATGTGTAAATTCGTGGTAACAAGGCAGAGTGAAGCAAGTGGTTAACAGCAGTCGGAATCAAGTGCTATGGAACTTCTGAGGAAAAAGTGATGAATTCTGCCTGATCTAATTGGGAAGCAAGGCCTCATTAGAGGTGATGCTTGCTGAGCCAAGGCGAAAGTCATGGGGACAATTTTGGTAGCTGGGAAAGACAGATCATTCTAGGCAAAGGGAACACCCTGAGCAAAGCAGGTGGCTTGATCGTAGATGAAGCATCTGAAGAATGAAGAAGTTTACTTAGTTGGAGTGCAGAATATCGTGGGAGAGAATCCCACAGAAACAGGCTGGAAGTGATATCACGGACGTCCTGGAAATGTGTACCTAGGAGTTTAGTCTTTACTCCAGAGGCAGTGCACAATGGCAAATGTTTGGGGATGCATTTTGATTGCATAATTGACTGTTTTAATGCTTGCTCTGTCATGTGTGATCTGTATCATATTTTTGTTCATAAAGTGCTAAAAGGGCCAAGGTAAAATCACTCTGAAAGCATATGGTTGTTTTTATATGTTTTTTGATGTTTTAATTATACTGACAGAAATACTGACTACTGTATTTTTGTCCATTACAGGATTCTTCTCTAATACTTGATGTTCCTCTGGGTGTGATCTCGAGAATTGAAAAAATGGGAGGCGCGACAAGTAGAGGAGAAAATTCCTATGGTCTAGATATTACTTGTAAAGTAAGAGATTCGATACTTTCTTATGCAAAGAACAAGGCACGTTAGTGTTGAATGATAGTAGACAATTAATGTGGATTTGAAAAAAAAAAATCAAAATCTCATGTTCATCTAAGGCCCTGGAAATGGTTCTTCCCTTAAGAACAAGCTTTTCAAAAGTGCCTGGGAAATAGTGCCCACGTGAGGGACCCACTGCAATCACCAAATACAAGGACTCGAGGAACTGGTCAGTTTGTTAGCTTGACTGAGTGGGAAGAGAACTTTATAGATAAAATTTCTTAAACCACTTTAGTTTTTGCTCCAGCTTGCTCCTGGCGCCCCTTCATGTCATATGTTAACATGAAGGAAGGAGGAATAGAAGAGATTTTGCCCTCTGTTAACGGGATGTGTCCTTACCTCTAATAACCTTCGTAACTTTTGCTTAGGTCATTTTCAGAGGTACACTTTGCTGTGATAGTAACCATGTATTGAACATTTGTGTCCATCCAAACACATGCTAGGTGCTTTGCATTTGATCCTCAAGTGCAACCCTCTGAGATGGCGTGATGGGAGCCCGAGGCTCCAAAGAGTTGGGTAACTTTGCTAAGATAATTTCTGAAGGCTGGGACCCAAAAGGTGGGGATGTGTTCAAGCGTCTCGTGTGACTATGAACCACCAGTCCAGTGCAGGGCTTTGCAGACTTTTTCTGTGAAGGGCTCAGTAGCAAATATTTTAGGCTTTGTGGGCCACATCAGATTTCTGTTGTGTATTCTTCTCTGTGTGTTGTTTTTTCAACCCTTTTGAAGTGTTAAAAAAAAAAAAAAACAGTCTTAATTTGAAGACCTGGGCTGAAGTTTGCTGGCCCCTGGCCAATCCAAGTCGTTCATTGTATTGATAGAGAAGTGAGGCCTTTGCTGTGTGAGATTACTTGCCTTGTGTTGCCTAGGGAGCCAGCGGAAGAGCCAGAACCAAAAACTAAGTCTCCTTTTTCTAGTCTCATACACTGCGATTTCTCAAAACCAACATTGTGTGCTTATATTTGGATTATGCTGCAATATGGTGTTTTTCTTTCCGTTTATAAAAGATCAAGACTCGTTTTTTCTATCAGAAACTAAAGGATAATGCCATTATTAAATCTTAACTGAAATTCACCACTACCATCCACCTCAGCTTTTTTTTGGTGGTGTTTTAATTCGAGCTACCTTAATGCTTTATCTATTATCCCAGCTACTGTCTACCCTTTGGGGCCTAGAAACATGGGAATTTACTTTGAAGGAAGACTTTTGTATTTTGCATAAAAGGATTTATGGGAGTAGAGTGTTTAATATTAGAGTGCTCAAGGGAAAATGGGGTTGCTATATTGACAGTTTTGAGGTGACTTTCATTCTTACAGGGTTTAAAAAAACCTATTTTCTGCCTTATAATAGGAAAAACTTGTACTTAAATATCAATCCCCCCAAAATTAATGAGACAAAGCACATTTTCACCCTTGACTATTTACGAACAAAAGGCGTAGGAACAACTCACCAAGCATAATTCTGAAATGTTACATATGTATATTTTTTGGAGTTAGCATGAGCCCAAAGGTGATGGCTTAGAACAATGTTGTAGCACAACCTTTTAACTAAATTGTCTCCCCAGAAACACTGACGTCACAGAGTCATATTCCATTTTCTCAGTAACAAACCTGACATTGATATAAAGGAAATCTGCTTCGGTGAGATAAAAGACTCACTGTCCTGTCTCTCATAGGTCAACTTTCGCCTGCAGTCAATAACCATGATACAACCGCATTTCTCTCTTGAAACAAGTAGTTACAACTCCTATAAATTTGGCTATGCCAGCAATGCACATAGAGATTTCTGCTTGCCAGTAGCAACTTTCCCATGGTAGATACAAGTCCCAGAGGATGTTGTCCAGCAGCAGGAGAAAGGTAGTTCTGAATATGCAAATTCTTACCCTGCAGGCCCCATACCAACCCCTGGTGCCTGTGTGGAGTCTTTCAAACAAAAAAAAGTGAAGTAAAACCATACCACCACAAAGCCTTCTCTTTCCTTCCCCACCTC
|
ACCAGCCTGGACAACATAGTAAGACTCTGTCTCTACAAAAAACTTTTAAAAAATTTGGCTGGGCATGGTGGCTCATGCTTATAATCCTAGAACTTTGGGAGGCCGAGGCAGGTGTATTACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCATCTAAAAAAAAAAAAAAATTAAGTGTGGCTGGTGGTGTGTGCCTGTGGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGACGTCAAGGCTGCAGTGAGCCACTGTACTCCAGCCTGAGCAACAGAGCAAGAACTTATCTCTTAAAAAAAAAAAAAAAGGGGGGAAAGAAAAGAAAAACTTTGTAGCCCCAAAAGGTTTTTAAAGAACAAAAAACCAAATAACCCTTAAAAATTTTTTTTCTTTATTTTTCAAACTTATCTATCACAATATGAAAGAAAAGTTTGGATTAAAAATGGTGTAGCCCTTCATGTCTTTGTCCCTGTAAATAGATATTTCATGTTATTGTAGTCACCGTGTGTGTTGTATGCTGCTGTTTCCCACTTAAACTTACTTTTCCATGTACCATAATTATTTTAAAAACTGTATACTTGTTCCAGCGAGTTGAGTATAATTTTTTCTACCCTGTTATCTACCTCTAGCTCCATTGAACATCTTCCTTCTGTTAAGTGATAGCCATAAGTTCTTAGTAGCGAAATTATTGGATCAAAGAGTAGGACAATTTTTATGGCACTTTTAATGTGTGTTTTCAGGCATTGCCTCGAGTCTCAACCCTGCCCTATACTTACTAAACAAGTTATTGAAGCTTTGAAAAACTTAGGAAATGGGGATACTTCACCTATATCCTGGAACGGTTGTGAGGATAAAATGAGATGATGCGTGCAAAGCCCCTAATGTAGTACCTGGCACAGAAGAGAGGTATTTCCTACATGGCAGCTGCTGTGATGATCTCCTGGTGATGATTGTGCTATTACTTGACTAACATGATTCCATCATGCCAGCAGTCTTCTAGACCACTTGCACCCAGCGTTGGATAGCAAATGATGGAGAAGCCTTGCTGTGCATTAAGGCCCTTCTGCTTTGGGAAATGCACGCATGCCAGAGACAAGCACCATTTCCAGATGCTTGGTCTCTAGTGGGGGAATACATATGTGTAAATTCGTGGTAACAAGGCAGAGTGAAGCAAGTGGTTAACAGCAGTCGGAATCAAGTGCTATGGAACTTCTGAGGAAAAAGTGATGAATTCTGCCTGATCTAATTGGGAAGCAAGGCCTCATTAGAGGTGATGCTTGCTGAGCCAAGGCGAAAGTCATGGGGACAATTTTGGTAGCTGGGAAAGACAGATCATTCTAGGCAAAGGGAACACCCTGAGCAAAGCAGGTGGCTTGATCGTAGATGAAGCATCTGAAGAATGAAGAAGTTTACTTAGTTGGAGTGCAGAATATCGTGGGAGAGAATCCCACAGAAACAGGCTGGAAGTGATATCACGGACGTCCTGGAAATGTGTACCTAGGAGTTTAGTCTTTACTCCAGAGGCAGTGCACAATGGCAAATGTTTGGGGATGCATTTTGATTGCATAATTGACTGTTTTAATGCTTGCTCTGTCATGTGTGATCTGTATCATATTTTTGTTCATAAAGTGCTAAAAGGGCCAAGGTAAAATCACTCTGAAAGCATATGGTTGTTTTTATATGTTTTTTGATGTTTTAATTATACTGACAGAAATACTGACTACTGTATTTTTGTCCATTACAGGATTCTTCTCTAATACTTGATGTTCCTCTGGGTGTGATCTCGAGAATTGAAAAAATGGGAGGCGCGACAAGTAGAGGAGAAAATTCCTATGGTCTAGATATTACTTGTAAGAGATTCGATACTTTCTTATGCAAAGAACAAGGCACGTTAGTGTTGAATGATAGTAGACAATTAATGTGGATTTGAAAAAAAAAAATCAAAATCTCATGTTCATCTAAGGCCCTGGAAATGGTTCTTCCCTTAAGAACAAGCTTTTCAAAAGTGCCTGGGAAATAGTGCCCACGTGAGGGACCCACTGCAATCACCAAATACAAGGACTCGAGGAACTGGTCAGTTTGTTAGCTTGACTGAGTGGGAAGAGAACTTTATAGATAAAATTTCTTAAACCACTTTAGTTTTTGCTCCAGCTTGCTCCTGGCGCCCCTTCATGTCATATGTTAACATGAAGGAAGGAGGAATAGAAGAGATTTTGCCCTCTGTTAACGGGATGTGTCCTTACCTCTAATAACCTTCGTAACTTTTGCTTAGGTCATTTTCAGAGGTACACTTTGCTGTGATAGTAACCATGTATTGAACATTTGTGTCCATCCAAACACATGCTAGGTGCTTTGCATTTGATCCTCAAGTGCAACCCTCTGAGATGGCGTGATGGGAGCCCGAGGCTCCAAAGAGTTGGGTAACTTTGCTAAGATAATTTCTGAAGGCTGGGACCCAAAAGGTGGGGATGTGTTCAAGCGTCTCGTGTGACTATGAACCACCAGTCCAGTGCAGGGCTTTGCAGACTTTTTCTGTGAAGGGCTCAGTAGCAAATATTTTAGGCTTTGTGGGCCACATCAGATTTCTGTTGTGTATTCTTCTCTGTGTGTTGTTTTTTCAACCCTTTTGAAGTGTTAAAAAAAAAAAAAAACAGTCTTAATTTGAAGACCTGGGCTGAAGTTTGCTGGCCCCTGGCCAATCCAAGTCGTTCATTGTATTGATAGAGAAGTGAGGCCTTTGCTGTGTGAGATTACTTGCCTTGTGTTGCCTAGGGAGCCAGCGGAAGAGCCAGAACCAAAAACTAAGTCTCCTTTTTCTAGTCTCATACACTGCGATTTCTCAAAACCAACATTGTGTGCTTATATTTGGATTATGCTGCAATATGGTGTTTTTCTTTCCGTTTATAAAAGATCAAGACTCGTTTTTTCTATCAGAAACTAAAGGATAATGCCATTATTAAATCTTAACTGAAATTCACCACTACCATCCACCTCAGCTTTTTTTTGGTGGTGTTTTAATTCGAGCTACCTTAATGCTTTATCTATTATCCCAGCTACTGTCTACCCTTTGGGGCCTAGAAACATGGGAATTTACTTTGAAGGAAGACTTTTGTATTTTGCATAAAAGGATTTATGGGAGTAGAGTGTTTAATATTAGAGTGCTCAAGGGAAAATGGGGTTGCTATATTGACAGTTTTGAGGTGACTTTCATTCTTACAGGGTTTAAAAAAACCTATTTTCTGCCTTATAATAGGAAAAACTTGTACTTAAATATCAATCCCCCCAAAATTAATGAGACAAAGCACATTTTCACCCTTGACTATTTACGAACAAAAGGCGTAGGAACAACTCACCAAGCATAATTCTGAAATGTTACATATGTATATTTTTTGGAGTTAGCATGAGCCCAAAGGTGATGGCTTAGAACAATGTTGTAGCACAACCTTTTAACTAAATTGTCTCCCCAGAAACACTGACGTCACAGAGTCATATTCCATTTTCTCAGTAACAAACCTGACATTGATATAAAGGAAATCTGCTTCGGTGAGATAAAAGACTCACTGTCCTGTCTCTCATAGGTCAACTTTCGCCTGCAGTCAATAACCATGATACAACCGCATTTCTCTCTTGAAACAAGTAGTTACAACTCCTATAAATTTGGCTATGCCAGCAATGCACATAGAGATTTCTGCTTGCCAGTAGCAACTTTCCCATGGTAGATACAAGTCCCAGAGGATGTTGTCCAGCAGCAGGAGAAAGGTAGTTCTGAATATGCAAATTCTTACCCTGCAGGCCCCATACCAACCCCTGGTGCCTGTGTGGAGTCTTTCAAACAAAAAAAAGTGAAGTAAAACCATACCACCACAAAGCCTTCTCTTTCCTTCCCCACCTCNNNNN
|
pathogenic
| 339,937 |
Variant at chromosome position 150619125, chromosome X, gene MTM1 (myotubularin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
TTTCTACTTCAGTTTTGTTGGCAAGAAATAATATTCTGTCTTTAATTGCATCTTAATCAGATGGCAAAAAGAAGTTACTTGAATCACTTGTGCTTTGGCACATTAAAAGTAGCTGTTTGAATCACTGATAGATCAGAATAAATATTCATGTAGAGATGGTCTAATTTCTGGCCAAGCAGTGAAGAGAACGATGTTACAGAGTTACCATCTGACTTGCGGCTGTTAGGAAGAAAGTTCCTCACAGGGCCTGAGCCCTGAGAATGCTCAGCTCTCCAGTATTGCACTTGTGGCTGGTCGTAAACCCTTGTAATGCATATCATCCCATTGAAATGATTATTCCCCTTATTTAACTGTTCATTTCATCACAAACCAATAACCAATAGCCCAATTTTCTTGGGAGGTGATATGAATGGGTTGTTGGACTTTATTCTGTGACATGCTTTTTAAAAAAGCATGGAATCGTGGAGCTGGCAAGGCCTAGTAGATGTCATCTGTATACAGAGTGCTCAATCTCAAGTTCTTTATTAGTGGTCTCAGACTTTAGTTCTTCATACTTCATTTGCTGCTATTTGTGTTTGAGATGTCTTGTGAAGGCCATAGCCTGTGCTGGTCCTTCAGACTGAAGACTTGGGAAGCGTTAAGAGTGCTCTTGAGATAAGGAAGGAAAAAGCACCTTGAAAAAAAATGAAGACTGTGATATCCAAGAGGGCAACAACTAGGTCTGTACCGCTCCTGAAGTGGCTCCATGGTCCAGCACAGCACTCCTTTATCTGAAATGAAAGTTTAAAGTGCACTGCAGAGCATAGGGTTCCAATGCAGAGCCATCACTCAGTCACAGCACTGTAATTGACTTTTTTTTTTAAGATACAACCTTAAAAAACTCCAGTCTTGAAAATAAGATAGAATGTTACATCTGTATATATAATACAAATTGACATTTAAAGGAGCTTATTTGGTTTGGATTTGGTTTAAGACAAAGTTTTCCTGCTTATTGAACAGATATGTATTGGAAGCTACCTTTAAAATCTGGTTTTGACTGTTTATTTTTAGTTCCCAAAAGTGTAGTTACTACTAATATGGGCTACTTTAATGTGGCTTATATGGAACTCTGTGAAGGTAAAATTGTAGAATAAAAATATATGACTTGCATGAGGGCTTAAAATGTCAGTCATTTAGGAAGAGAGCTTCTGTATTTTAATGACATGTTTGACAATGTTGAGATTATATTTGATAGCAGGTACTCTTTAGAAAAGTTGTTTGAATAAAATAGTTTTATAATTAAAAAAAATATCAGGGCCGGATGTGGTGGCTTGACACCTGTAATCCTGGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGCGTTCTGTAGTCCCAGCCACTCAGGAGGCTGAGGCACGAGAATCCCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTACACTCCAGCCTGGGCCACAGAGTGAGACTATGTCTCAAAAACTAAATTAAATAAAATAAATTTTAAAAAATTTAAAAATACCTCAGAACCCAGTGAAAGTAGATGGATCATCGTAGATGTTGTGCAAGGCAAGGTTTGATTTTTTTTTCCTTTTTATAAAATGAATTTTAGCTCTGTCTTCTCCTTAGTGCTAGTTGCTTTATCTTGTCTTCACATTCATGGCTATGACGGAAATATTTTCAGGTGTTCTTAAGCCAGATATACCAAATTACCATATAAAACAAAGCAATTTTGTAATAATTTAGATTAATTGCCCTTTTAGGTAAGTGAATCTTCTCCCTTAATTGAATGGAAGATTTCTTGCTAATTAACATGACTTTCTTTGAAGACTGAACTGTCATACTTCTCCTTTGCCCCCAGGACATGAGAAACCTGAGGTTCGCTTTGAAACAGGAAGGCCACAGCAGAAGAGATATGTTTGAGATCCTCACGAGATACGCGTTTCCCCTGGCTCACAGTCTGGTAAATTCCAGTGCTCTCCTCAGCGTGGGAAGGTTCTCAGTGCCTCCTCTGTGAAAACTGCCTGCAAACTGGGATCCTCTTTCTTTTAATGTCTGTGTTGTGTTTCCCAGTGTGATGTGTCTGCAGAGGTGTTTATTAAATAATTTCATCATTTCCAGAGGGAACAGGTCTCTCCCCTGTCAGTCAACTTTGGAGCTAATGAGCAATGAGTGTCAGGCTTTTGTGGCTCCAATTGTAAATGGGAACAAACTCTCTGAGCCTAAATGCCATTTGAACAAATACAGATGTGTGGTGTAGGTACTGCACCAATAGCTGAATAGGGGCAGTTTTATTTTTGAAAAGAATAACCTTTCAAATGTCATTTGATAGCATTTATTATGTAATTGTCAGGACCAATTTATTATGCATTTAATTAGTTGTAATCTATGACTTAGTCCAAAGGTGATTCAGTATATGTACCTAAAACTTTTCCTTCCTCTTCACCAAACTACTGGAGTAACCTTACTCTTACTGCATGACTGAAATAAGGCTTTCTATGAGTTTTGCTTGTAGAACAATCTTTCTTTATATCCTGCCTCGGCCTTGCCTCCTTTTTTACTGCCGTGCCTTGCTTGAATCTTCTAACCCCAGTCCTCCTCCTCAGTTTGACTTGAACTTAGATGCAAATACCTGCTAAGGGGAGAGTGAAAAAATAATTATTTACAACATATACTGTATAAATGCCTTTATCTTAAGTATAGGATGATCATATTGCAGACTAAACCGAAGGTGATGGAAGGGACCCTTAAGTAGAAGAGGCATGTGTTGAACGCAGATGAAAATGTAATGCTTGGGAACAAATGTGCTGATCTCATAATTGAATCTATTTTCAGCCTTTTCTAAGTTTCTGATTAAATATGTGATTTTTAAAAATATGTCTATATTAGAGTTTTTAATTCTATTAGGATAAAAAGAGAGTCTGATGGGAACACATCTTCTTAATTATTATGAAAGTGAGAATGTGAGTCTAATTGATGAAAGTTCAATTAGGAAATGTGTTCTGTCTTGATTTATGCATATCTGGCCCTAAATTATCAGAAATTGACAGAATGGCAGGTTTGAAGGAGCTGAAGCCCCAGTCTGTCTCCTGCAAGATCTTGCTTCATCAGACATCCCCTTTCTCTGGTATCTTCTGTTTCTTCTAGGGTATACTCCCCTAAAAAAGTCAAGTGCTGGACCAGCTTTCCCCTTATACTACTGTCCCATCTTTCACTTCATTGCCAAACTTCTGGAAAGAATATTCTAGCCTATCCTCGTCTCCAGTGCATTCATTCCTCCAACCCATTCCAGTATGGAGCTCATTACTGGCCAAATCTAGTGGCTCATTTCCATCTCATTCTGTTTGATCTCTTCCCCAGCATTCAACAATTTTGACCATCGTCTTCTTGAAAGTCTTGGTTTCTGTATTCCTGCACCATCTTGATTGTTCCTTTCCAGTCTCCACTACCTCTGTCTTTTCCTTAAATGTAAATATGTCTTCACTCTCATCCCTCTTCTCTTCTCATCTTATTAACTTTGCCTTGATGGTTTCGTTTAGTTTAAAGTCGTCACTGCTATGTAGATGACTTCTAAATCTAACCCTGATATTGTCCTTGAGTGAGTCCAATGAGTCTAACCCTCAAATTCCTTCCTCTGGGAGTCTGAGAATCATGAGCTCATCTGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGATGGATCACTTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCCTACTAAAAATATAAAAATATTAGCTGGGTGTAGTGCTGGGCACCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTACTCCAGCCTGGGTGACAAAAGCAAAGCTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGTAGAATCACAAACTTCTTGTTGCCCTGACC
|
TTTCTACTTCAGTTTTGTTGGCAAGAAATAATATTCTGTCTTTAATTGCATCTTAATCAGATGGCAAAAAGAAGTTACTTGAATCACTTGTGCTTTGGCACATTAAAAGTAGCTGTTTGAATCACTGATAGATCAGAATAAATATTCATGTAGAGATGGTCTAATTTCTGGCCAAGCAGTGAAGAGAACGATGTTACAGAGTTACCATCTGACTTGCGGCTGTTAGGAAGAAAGTTCCTCACAGGGCCTGAGCCCTGAGAATGCTCAGCTCTCCAGTATTGCACTTGTGGCTGGTCGTAAACCCTTGTAATGCATATCATCCCATTGAAATGATTATTCCCCTTATTTAACTGTTCATTTCATCACAAACCAATAACCAATAGCCCAATTTTCTTGGGAGGTGATATGAATGGGTTGTTGGACTTTATTCTGTGACATGCTTTTTAAAAAAGCATGGAATCGTGGAGCTGGCAAGGCCTAGTAGATGTCATCTGTATACAGAGTGCTCAATCTCAAGTTCTTTATTAGTGGTCTCAGACTTTAGTTCTTCATACTTCATTTGCTGCTATTTGTGTTTGAGATGTCTTGTGAAGGCCATAGCCTGTGCTGGTCCTTCAGACTGAAGACTTGGGAAGCGTTAAGAGTGCTCTTGAGATAAGGAAGGAAAAAGCACCTTGAAAAAAAATGAAGACTGTGATATCCAAGAGGGCAACAACTAGGTCTGTACCGCTCCTGAAGTGGCTCCATGGTCCAGCACAGCACTCCTTTATCTGAAATGAAAGTTTAAAGTGCACTGCAGAGCATAGGGTTCCAATGCAGAGCCATCACTCAGTCACAGCACTGTAATTGACTTTTTTTTTTAAGATACAACCTTAAAAAACTCCAGTCTTGAAAATAAGATAGAATGTTACATCTGTATATATAATACAAATTGACATTTAAAGGAGCTTATTTGGTTTGGATTTGGTTTAAGACAAAGTTTTCCTGCTTATTGAACAGATATGTATTGGAAGCTACCTTTAAAATCTGGTTTTGACTGTTTATTTTTAGTTCCCAAAAGTGTAGTTACTACTAATATGGGCTACTTTAATGTGGCTTATATGGAACTCTGTGAAGGTAAAATTGTAGAATAAAAATATATGACTTGCATGAGGGCTTAAAATGTCAGTCATTTAGGAAGAGAGCTTCTGTATTTTAATGACATGTTTGACAATGTTGAGATTATATTTGATAGCAGGTACTCTTTAGAAAAGTTGTTTGAATAAAATAGTTTTATAATTAAAAAAAATATCAGGGCCGGATGTGGTGGCTTGACACCTGTAATCCTGGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGCGTTCTGTAGTCCCAGCCACTCAGGAGGCTGAGGCACGAGAATCCCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTACACTCCAGCCTGGGCCACAGAGTGAGACTATGTCTCAAAAACTAAATTAAATAAAATAAATTTTAAAAAATTTAAAAATACCTCAGAACCCAGTGAAAGTAGATGGATCATCGTAGATGTTGTGCAAGGCAAGGTTTGATTTTTTTTTCCTTTTTATAAAATGAATTTTAGCTCTGTCTTCTCCTTAGTGCTAGTTGCTTTATCTTGTCTTCACATTCATGGCTATGACGGAAATATTTTCAGGTGTTCTTAAGCCAGATATACCAAATTACCATATAAAACAAAGCAATTTTGTAATAATTTAGATTAATTGCCCTTTTAGGTAAGTGAATCTTCTCCCTTAATTGAATGGAAGATTTCTTGCTAATTAACATGACTTTCTTTGAAGACTGAACTGTCATACTTCTCCTTTGCCCCCAGGACATGAGAAACCTGAGGTTCGCTTTGAAACAGGAAGGCCACAGCAGAAGAGATATGTTTGAGATCCTCACGAGATACGCGTTTCCCCGGCTCACAGTCTGGTAAATTCCAGTGCTCTCCTCAGCGTGGGAAGGTTCTCAGTGCCTCCTCTGTGAAAACTGCCTGCAAACTGGGATCCTCTTTCTTTTAATGTCTGTGTTGTGTTTCCCAGTGTGATGTGTCTGCAGAGGTGTTTATTAAATAATTTCATCATTTCCAGAGGGAACAGGTCTCTCCCCTGTCAGTCAACTTTGGAGCTAATGAGCAATGAGTGTCAGGCTTTTGTGGCTCCAATTGTAAATGGGAACAAACTCTCTGAGCCTAAATGCCATTTGAACAAATACAGATGTGTGGTGTAGGTACTGCACCAATAGCTGAATAGGGGCAGTTTTATTTTTGAAAAGAATAACCTTTCAAATGTCATTTGATAGCATTTATTATGTAATTGTCAGGACCAATTTATTATGCATTTAATTAGTTGTAATCTATGACTTAGTCCAAAGGTGATTCAGTATATGTACCTAAAACTTTTCCTTCCTCTTCACCAAACTACTGGAGTAACCTTACTCTTACTGCATGACTGAAATAAGGCTTTCTATGAGTTTTGCTTGTAGAACAATCTTTCTTTATATCCTGCCTCGGCCTTGCCTCCTTTTTTACTGCCGTGCCTTGCTTGAATCTTCTAACCCCAGTCCTCCTCCTCAGTTTGACTTGAACTTAGATGCAAATACCTGCTAAGGGGAGAGTGAAAAAATAATTATTTACAACATATACTGTATAAATGCCTTTATCTTAAGTATAGGATGATCATATTGCAGACTAAACCGAAGGTGATGGAAGGGACCCTTAAGTAGAAGAGGCATGTGTTGAACGCAGATGAAAATGTAATGCTTGGGAACAAATGTGCTGATCTCATAATTGAATCTATTTTCAGCCTTTTCTAAGTTTCTGATTAAATATGTGATTTTTAAAAATATGTCTATATTAGAGTTTTTAATTCTATTAGGATAAAAAGAGAGTCTGATGGGAACACATCTTCTTAATTATTATGAAAGTGAGAATGTGAGTCTAATTGATGAAAGTTCAATTAGGAAATGTGTTCTGTCTTGATTTATGCATATCTGGCCCTAAATTATCAGAAATTGACAGAATGGCAGGTTTGAAGGAGCTGAAGCCCCAGTCTGTCTCCTGCAAGATCTTGCTTCATCAGACATCCCCTTTCTCTGGTATCTTCTGTTTCTTCTAGGGTATACTCCCCTAAAAAAGTCAAGTGCTGGACCAGCTTTCCCCTTATACTACTGTCCCATCTTTCACTTCATTGCCAAACTTCTGGAAAGAATATTCTAGCCTATCCTCGTCTCCAGTGCATTCATTCCTCCAACCCATTCCAGTATGGAGCTCATTACTGGCCAAATCTAGTGGCTCATTTCCATCTCATTCTGTTTGATCTCTTCCCCAGCATTCAACAATTTTGACCATCGTCTTCTTGAAAGTCTTGGTTTCTGTATTCCTGCACCATCTTGATTGTTCCTTTCCAGTCTCCACTACCTCTGTCTTTTCCTTAAATGTAAATATGTCTTCACTCTCATCCCTCTTCTCTTCTCATCTTATTAACTTTGCCTTGATGGTTTCGTTTAGTTTAAAGTCGTCACTGCTATGTAGATGACTTCTAAATCTAACCCTGATATTGTCCTTGAGTGAGTCCAATGAGTCTAACCCTCAAATTCCTTCCTCTGGGAGTCTGAGAATCATGAGCTCATCTGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGATGGATCACTTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCCTACTAAAAATATAAAAATATTAGCTGGGTGTAGTGCTGGGCACCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTACTCCAGCCTGGGTGACAAAAGCAAAGCTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGTAGAATCACAAACTTCTTGTTGCCCTGACCN
|
pathogenic
| 339,940 |
Classify the chromosome X variant at position 150641287 affecting gene MTM1 (myotubularin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
TCGAAGACTGGGTCACTAAATCCTATTTCCTTCCCTATATGAAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCATATTGCTGTTCAGGAACAAAAGTCTCTTGCAGTATTTTTGTTAAGGGAATTCTGTGCATAATATGTAACAAGAGCCACAGTTTGACCTCTGGTATAACCAAATCTGTAGGCAGCTAGGAGTTGTGTGATGGGATTATTCACAATTCTTGTTCTACAAAGCTCTTAAGATAATTGAAAAGTTTTGTTGAATGAGATTTGAGAATCAGATCAAACCCATTTGCTTTATATGAAAAGGTAGTGAATATAAAGTAAAATCGTAGAACCCTAGACTTGAGAAGAACCATCTAGTCACCACCTTCACCATGAAAAACCTGGATTGGTTTCCTTTTTTAGTCTTAATCAACGGTTTGCATATTCATGAACAGATTTGACGCTCTGGAATTTGGGTGCAGGAGTTTAGCTTTAGAACATATGTGACATAGTATATCCTGTTGCTTCCATAAGTCACGTTTAGACTGTTGAGTTTTCTAAGGCTTTGCACTACTCCCATTTTAATGGCCTCAGTTCTGGACTAGCTACTGAGGCGGAAGAAGGACCATGAAAACATTTTGCATGTTTTGGAGACCTCTGTAAATGATGTATTAAAATATTTTTACCTTCTTTTTGAAGTATTACTGATAACATTAAGACTTTTTTTTAGTTCAAAGCTTCTAGCTTGAAACAAAACAGTTCCTGTTTTTAAGATTGCATGCATATATGAACTGTTGAAGGTATTTTGTTCTAGACTGCCATTATATTCAATCTTTTTTTCTTATAACTTTCTGATGGGACTTATAACTGTCTAATTGGACTCAGCATCAGACTCAACATCTGTTTGGTCCGTGGTCTCTAGGGCCAGACCTAAAGAAAAGGTACAATGTCTGTCCCCAAAGCAAACACCCACATAGCTCACTTTTGTGTGTGTATCTGTGCATTTGTGAGAATGGGGAGAGAATATTCCACCACCTCTGGATCTTTTCCATACTAAATACAATTTTGTGGGGGAGATGATAGGATGGGAGGTGTCTTCTGTGTCTCCCTGTCACATTAGCAGTCTGCTTAAAATGCAAATGACTGTATTTCTCACACAAACTATAGGGCAATCATCGATTCCGAACAACTTGATTGAAAAAAAACTCATCGGAGGTGGCGAAATGAGCCTCCCCAGAGGGATCTTCCTTTACTTCCCCTCATGATTTTCTTCATGAGCTCAGCCTCTTTCCACTTTGGAGCAGACTGAAGCATTCACTCTATTTTGAGCAGGGAGAGGAAGTTGCCTGATCTCTTTTCTACCCTCAGTTAGAGCCAGATTAAGATGAAGCAGGGTATTTTTTTAGGGGATGGGAGGGGTGCATGGGCGGGGGATGAACTTGGGTTTATCTGTGTGGTACAGGTAGTAAAGAATATGTGGACACAAAATAAAGGAAGACGAATTCCTTTGAATTCAAGAGAATCTGTATTTACAAAGTATAGTTTAGAACTGTAAAAACCACCAGTGTTTTGTCTTGTGTTCTTACGTTGTCTGGATTATTGATTTGGCACCCTTATTATAAATAGGTAGACCGTCATCACCCTGTGGTCAAAGAGGCATGTGCACATATTGCTAGAAGGAAGAAAAGAGGCCCAAGGCCAAATCCAGAGATGAGGTCAAGCAATACTGACTTGAATTTCTTTTTTTCCTCACAGGGCTTGCCCAATCACCATTGGAGAATAACTTTTATTAATAAGTGCTATGAGCTCTGTGACACTTACCCTGCTCTTTTGGTGGTTCCGTATCGTGCCTCAGATGATGACCTCCGGAGAGTTGCAACTTTTAGGTCCCGAAATCGAATTCCAGTGAGTACTGCAATTAACGTTTCTCTTGAAGAGCACCTTTTAGTCCATAAGAATGGTAGTCATATAACTTAGAGAAACGGTCCTTTTGGAATTCTATCCCAAAAAATACTTACTAAGTGCTTTGTGAGTACAAAGTACCATACCAGACTGGAGAAGAAGTGTGCCGTCACCTGCCTTCTAGGAGCTTGCAACTAAGGATCAAGAATGAACGCAAGTAAAGAGCTCTCTACGAGAGAGGGGCTGCAAGTAATGGGAACCAAGTGCTGTGTGGAAGGAAGCAAGGAAAGACAGGCTCTTTGTGGCTTTTGTCTTTGTGGCACAGTACATGATACTATATGATAGGCTCTTGATAAATGTCAGATAAATCATGCTGGAAAGAACACACTGTCTTGTTATAAAATGTGTCAGCACAGACTTTGACATACACTCACCACGAGCTCACCCCCATCACCTTTGCAGGCTGCCCCAATACCATTGTCTAACTGGAGTCAAGTATAGATTATTCCAGACACTATCCATACGGTATCACTGCACCTAGTTCACAAAGCTCTCTTTTGGTCCTTAAATATTAATGGACATGTGATACTATCTAACATTGACAAAAATTGACTAAAAATTTAGGTATTCTCCCCTGCTAATTTTCAGGGTCTGTCATAAGTACCTTGGGGTTTTTTTTTTCCCCTAATAAGTAAATGTTTAAAAACAAAGGTTGAAGAAATTAAGACTTAATGTCACCTTGCCTTTTTCAAGTCTAGACATTTTTTTTCCTTAAAAGGATATTTGTGCAAAACTTTTGTATTGTCAGCCTAATATGAATTGTAATTTTTTTTAATTCACTTGTTATACACTTCTAGCCATAAAACCGCAGAAGTGATGCTGTGTTCTCAGTGCACCACCTTAGGAGACATGCTGTTGATTTGTCCCGTTATTAGTGATGTTAACTGTGATTATTCTGCTAAGGCAGTGTCTGTCATGTTTTTCCACTATAGCACTACTATTTTACCCATTAAAATTAATAAATGCTTTATGTAATGATTTTTTTAATTCACTTGCTTCTCCAGTTAGTAGTGTCTGTTCATATCTTCGCGATATAAATTGTACTTGAAAGTATGTTCTTTAGCTCATGTTGTTAGAACATGATGCTAATGAAGCTAGGGTTACAAGTTCAGTCTTCCTGTGCTCTGTTTGGACATGCTCTTCTGTACCATAGCCACAGACTACACCCCTACCCTGGCTGGCTGTCTGTCTTGCTAATGCATGCCTTGCTCACAAGGACAACTGGGCTAGGGTAGCCTGGCTCAGTTTTGTTCATGTATTCATTCAGTTCATATTTATTGAGCATCTACCGTGTCATTTGTGTATGTGGGTGAATTCTATGGGATTTGAAACAGAGAAAATTGAACAACTGTGCCCTTTCTACCATGCTTGGTTGCCATCTTGATCCAGTAGTCCCCATTATTCTGAATGAATGAGTGTCTACTGTAGAGCAGATAGAATTTCTTAACTTTTTATTTAGTCATGTTATTGATCCTTCTTACTTTATCATGGCCACCAATTTGTATTTATTTTTTCTAAAATGGCTTTTATAGGGAAGACTAAGTTCCCCATCACCTCTACATATTTATAGATTTACTATTAGGTACTATTAAGCGTGGTAATATGTTCTTTGCAGTATGCTTTCTAACCACCCGGCTGTTGGCTAAGTCTCAGAGCTTTGCTTCCACCCAGAAAACATATGTGCCTTTAATGTGAAATCATTAATATCTGATAGTTGGTTCTTTTTATAAAACCTCATGTAAAAATACAAAAGGAAGTGACATGAAAGAGATCTTATTTTGCATGTAAATAAGATATAAACTATAATAAAATATTGCTGGGTAGAGAAATAATCAATGTGCATTAAATGTTTCCATTAA
|
TCGAAGACTGGGTCACTAAATCCTATTTCCTTCCCTATATGAAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCATATTGCTGTTCAGGAACAAAAGTCTCTTGCAGTATTTTTGTTAAGGGAATTCTGTGCATAATATGTAACAAGAGCCACAGTTTGACCTCTGGTATAACCAAATCTGTAGGCAGCTAGGAGTTGTGTGATGGGATTATTCACAATTCTTGTTCTACAAAGCTCTTAAGATAATTGAAAAGTTTTGTTGAATGAGATTTGAGAATCAGATCAAACCCATTTGCTTTATATGAAAAGGTAGTGAATATAAAGTAAAATCGTAGAACCCTAGACTTGAGAAGAACCATCTAGTCACCACCTTCACCATGAAAAACCTGGATTGGTTTCCTTTTTTAGTCTTAATCAACGGTTTGCATATTCATGAACAGATTTGACGCTCTGGAATTTGGGTGCAGGAGTTTAGCTTTAGAACATATGTGACATAGTATATCCTGTTGCTTCCATAAGTCACGTTTAGACTGTTGAGTTTTCTAAGGCTTTGCACTACTCCCATTTTAATGGCCTCAGTTCTGGACTAGCTACTGAGGCGGAAGAAGGACCATGAAAACATTTTGCATGTTTTGGAGACCTCTGTAAATGATGTATTAAAATATTTTTACCTTCTTTTTGAAGTATTACTGATAACATTAAGACTTTTTTTTAGTTCAAAGCTTCTAGCTTGAAACAAAACAGTTCCTGTTTTTAAGATTGCATGCATATATGAACTGTTGAAGGTATTTTGTTCTAGACTGCCATTATATTCAATCTTTTTTTCTTATAACTTTCTGATGGGACTTATAACTGTCTAATTGGACTCAGCATCAGACTCAACATCTGTTTGGTCCGTGGTCTCTAGGGCCAGACCTAAAGAAAAGGTACAATGTCTGTCCCCAAAGCAAACACCCACATAGCTCACTTTTGTGTGTGTATCTGTGCATTTGTGAGAATGGGGAGAGAATATTCCACCACCTCTGGATCTTTTCCATACTAAATACAATTTTGTGGGGGAGATGATAGGATGGGAGGTGTCTTCTGTGTCTCCCTGTCACATTAGCAGTCTGCTTAAAATGCAAATGACTGTATTTCTCACACAAACTATAGGGCAATCATCGATTCCGAACAACTTGATTGAAAAAAAACTCATCGGAGGTGGCGAAATGAGCCTCCCCAGAGGGATCTTCCTTTACTTCCCCTCATGATTTTCTTCATGAGCTCAGCCTCTTTCCACTTTGGAGCAGACTGAAGCATTCACTCTATTTTGAGCAGGGAGAGGAAGTTGCCTGATCTCTTTTCTACCCTCAGTTAGAGCCAGATTAAGATGAAGCAGGGTATTTTTTTAGGGGATGGGAGGGGTGCATGGGCGGGGGATGAACTTGGGTTTATCTGTGTGGTACAGGTAGTAAAGAATATGTGGACACAAAATAAAGGAAGACGAATTCCTTTGAATTCAAGAGAATCTGTATTTACAAAGTATAGTTTAGAACTGTAAAAACCACCAGTGTTTTGTCTTGTGTTCTTACGTTGTCTGGATTATTGATTTGGCACCCTTATTATAAATAGGTAGACCGTCATCACCCTGTGGTCAAAGAGGCATGTGCACATATTGCTAGAAGGAAGAAAAGAGGCCCAAGGCCAAATCCAGAGATGAGGTCAAGCAATACTGACTTGAATTTCTTTTTTTCCTCACAGGGCTTGCCCAATCACCATTGGGAGAATAACTTTTATTAATAAGTGCTATGAGCTCTGTGACACTTACCCTGCTCTTTTGGTGGTTCCGTATCGTGCCTCAGATGATGACCTCCGGAGAGTTGCAACTTTTAGGTCCCGAAATCGAATTCCAGTGAGTACTGCAATTAACGTTTCTCTTGAAGAGCACCTTTTAGTCCATAAGAATGGTAGTCATATAACTTAGAGAAACGGTCCTTTTGGAATTCTATCCCAAAAAATACTTACTAAGTGCTTTGTGAGTACAAAGTACCATACCAGACTGGAGAAGAAGTGTGCCGTCACCTGCCTTCTAGGAGCTTGCAACTAAGGATCAAGAATGAACGCAAGTAAAGAGCTCTCTACGAGAGAGGGGCTGCAAGTAATGGGAACCAAGTGCTGTGTGGAAGGAAGCAAGGAAAGACAGGCTCTTTGTGGCTTTTGTCTTTGTGGCACAGTACATGATACTATATGATAGGCTCTTGATAAATGTCAGATAAATCATGCTGGAAAGAACACACTGTCTTGTTATAAAATGTGTCAGCACAGACTTTGACATACACTCACCACGAGCTCACCCCCATCACCTTTGCAGGCTGCCCCAATACCATTGTCTAACTGGAGTCAAGTATAGATTATTCCAGACACTATCCATACGGTATCACTGCACCTAGTTCACAAAGCTCTCTTTTGGTCCTTAAATATTAATGGACATGTGATACTATCTAACATTGACAAAAATTGACTAAAAATTTAGGTATTCTCCCCTGCTAATTTTCAGGGTCTGTCATAAGTACCTTGGGGTTTTTTTTTTCCCCTAATAAGTAAATGTTTAAAAACAAAGGTTGAAGAAATTAAGACTTAATGTCACCTTGCCTTTTTCAAGTCTAGACATTTTTTTTCCTTAAAAGGATATTTGTGCAAAACTTTTGTATTGTCAGCCTAATATGAATTGTAATTTTTTTTAATTCACTTGTTATACACTTCTAGCCATAAAACCGCAGAAGTGATGCTGTGTTCTCAGTGCACCACCTTAGGAGACATGCTGTTGATTTGTCCCGTTATTAGTGATGTTAACTGTGATTATTCTGCTAAGGCAGTGTCTGTCATGTTTTTCCACTATAGCACTACTATTTTACCCATTAAAATTAATAAATGCTTTATGTAATGATTTTTTTAATTCACTTGCTTCTCCAGTTAGTAGTGTCTGTTCATATCTTCGCGATATAAATTGTACTTGAAAGTATGTTCTTTAGCTCATGTTGTTAGAACATGATGCTAATGAAGCTAGGGTTACAAGTTCAGTCTTCCTGTGCTCTGTTTGGACATGCTCTTCTGTACCATAGCCACAGACTACACCCCTACCCTGGCTGGCTGTCTGTCTTGCTAATGCATGCCTTGCTCACAAGGACAACTGGGCTAGGGTAGCCTGGCTCAGTTTTGTTCATGTATTCATTCAGTTCATATTTATTGAGCATCTACCGTGTCATTTGTGTATGTGGGTGAATTCTATGGGATTTGAAACAGAGAAAATTGAACAACTGTGCCCTTTCTACCATGCTTGGTTGCCATCTTGATCCAGTAGTCCCCATTATTCTGAATGAATGAGTGTCTACTGTAGAGCAGATAGAATTTCTTAACTTTTTATTTAGTCATGTTATTGATCCTTCTTACTTTATCATGGCCACCAATTTGTATTTATTTTTTCTAAAATGGCTTTTATAGGGAAGACTAAGTTCCCCATCACCTCTACATATTTATAGATTTACTATTAGGTACTATTAAGCGTGGTAATATGTTCTTTGCAGTATGCTTTCTAACCACCCGGCTGTTGGCTAAGTCTCAGAGCTTTGCTTCCACCCAGAAAACATATGTGCCTTTAATGTGAAATCATTAATATCTGATAGTTGGTTCTTTTTATAAAACCTCATGTAAAAATACAAAAGGAAGTGACATGAAAGAGATCTTATTTTGCATGTAAATAAGATATAAACTATAATAAAATATTGCTGGGTAGAGAAATAATCAATGTGCATTAAATGTTTCCATTA
|
pathogenic
| 339,946 |
Assess the variant on chromosome X, position 150641328, impacting MTM1 (myotubularin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
AAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCATATTGCTGTTCAGGAACAAAAGTCTCTTGCAGTATTTTTGTTAAGGGAATTCTGTGCATAATATGTAACAAGAGCCACAGTTTGACCTCTGGTATAACCAAATCTGTAGGCAGCTAGGAGTTGTGTGATGGGATTATTCACAATTCTTGTTCTACAAAGCTCTTAAGATAATTGAAAAGTTTTGTTGAATGAGATTTGAGAATCAGATCAAACCCATTTGCTTTATATGAAAAGGTAGTGAATATAAAGTAAAATCGTAGAACCCTAGACTTGAGAAGAACCATCTAGTCACCACCTTCACCATGAAAAACCTGGATTGGTTTCCTTTTTTAGTCTTAATCAACGGTTTGCATATTCATGAACAGATTTGACGCTCTGGAATTTGGGTGCAGGAGTTTAGCTTTAGAACATATGTGACATAGTATATCCTGTTGCTTCCATAAGTCACGTTTAGACTGTTGAGTTTTCTAAGGCTTTGCACTACTCCCATTTTAATGGCCTCAGTTCTGGACTAGCTACTGAGGCGGAAGAAGGACCATGAAAACATTTTGCATGTTTTGGAGACCTCTGTAAATGATGTATTAAAATATTTTTACCTTCTTTTTGAAGTATTACTGATAACATTAAGACTTTTTTTTAGTTCAAAGCTTCTAGCTTGAAACAAAACAGTTCCTGTTTTTAAGATTGCATGCATATATGAACTGTTGAAGGTATTTTGTTCTAGACTGCCATTATATTCAATCTTTTTTTCTTATAACTTTCTGATGGGACTTATAACTGTCTAATTGGACTCAGCATCAGACTCAACATCTGTTTGGTCCGTGGTCTCTAGGGCCAGACCTAAAGAAAAGGTACAATGTCTGTCCCCAAAGCAAACACCCACATAGCTCACTTTTGTGTGTGTATCTGTGCATTTGTGAGAATGGGGAGAGAATATTCCACCACCTCTGGATCTTTTCCATACTAAATACAATTTTGTGGGGGAGATGATAGGATGGGAGGTGTCTTCTGTGTCTCCCTGTCACATTAGCAGTCTGCTTAAAATGCAAATGACTGTATTTCTCACACAAACTATAGGGCAATCATCGATTCCGAACAACTTGATTGAAAAAAAACTCATCGGAGGTGGCGAAATGAGCCTCCCCAGAGGGATCTTCCTTTACTTCCCCTCATGATTTTCTTCATGAGCTCAGCCTCTTTCCACTTTGGAGCAGACTGAAGCATTCACTCTATTTTGAGCAGGGAGAGGAAGTTGCCTGATCTCTTTTCTACCCTCAGTTAGAGCCAGATTAAGATGAAGCAGGGTATTTTTTTAGGGGATGGGAGGGGTGCATGGGCGGGGGATGAACTTGGGTTTATCTGTGTGGTACAGGTAGTAAAGAATATGTGGACACAAAATAAAGGAAGACGAATTCCTTTGAATTCAAGAGAATCTGTATTTACAAAGTATAGTTTAGAACTGTAAAAACCACCAGTGTTTTGTCTTGTGTTCTTACGTTGTCTGGATTATTGATTTGGCACCCTTATTATAAATAGGTAGACCGTCATCACCCTGTGGTCAAAGAGGCATGTGCACATATTGCTAGAAGGAAGAAAAGAGGCCCAAGGCCAAATCCAGAGATGAGGTCAAGCAATACTGACTTGAATTTCTTTTTTTCCTCACAGGGCTTGCCCAATCACCATTGGAGAATAACTTTTATTAATAAGTGCTATGAGCTCTGTGACACTTACCCTGCTCTTTTGGTGGTTCCGTATCGTGCCTCAGATGATGACCTCCGGAGAGTTGCAACTTTTAGGTCCCGAAATCGAATTCCAGTGAGTACTGCAATTAACGTTTCTCTTGAAGAGCACCTTTTAGTCCATAAGAATGGTAGTCATATAACTTAGAGAAACGGTCCTTTTGGAATTCTATCCCAAAAAATACTTACTAAGTGCTTTGTGAGTACAAAGTACCATACCAGACTGGAGAAGAAGTGTGCCGTCACCTGCCTTCTAGGAGCTTGCAACTAAGGATCAAGAATGAACGCAAGTAAAGAGCTCTCTACGAGAGAGGGGCTGCAAGTAATGGGAACCAAGTGCTGTGTGGAAGGAAGCAAGGAAAGACAGGCTCTTTGTGGCTTTTGTCTTTGTGGCACAGTACATGATACTATATGATAGGCTCTTGATAAATGTCAGATAAATCATGCTGGAAAGAACACACTGTCTTGTTATAAAATGTGTCAGCACAGACTTTGACATACACTCACCACGAGCTCACCCCCATCACCTTTGCAGGCTGCCCCAATACCATTGTCTAACTGGAGTCAAGTATAGATTATTCCAGACACTATCCATACGGTATCACTGCACCTAGTTCACAAAGCTCTCTTTTGGTCCTTAAATATTAATGGACATGTGATACTATCTAACATTGACAAAAATTGACTAAAAATTTAGGTATTCTCCCCTGCTAATTTTCAGGGTCTGTCATAAGTACCTTGGGGTTTTTTTTTTCCCCTAATAAGTAAATGTTTAAAAACAAAGGTTGAAGAAATTAAGACTTAATGTCACCTTGCCTTTTTCAAGTCTAGACATTTTTTTTCCTTAAAAGGATATTTGTGCAAAACTTTTGTATTGTCAGCCTAATATGAATTGTAATTTTTTTTAATTCACTTGTTATACACTTCTAGCCATAAAACCGCAGAAGTGATGCTGTGTTCTCAGTGCACCACCTTAGGAGACATGCTGTTGATTTGTCCCGTTATTAGTGATGTTAACTGTGATTATTCTGCTAAGGCAGTGTCTGTCATGTTTTTCCACTATAGCACTACTATTTTACCCATTAAAATTAATAAATGCTTTATGTAATGATTTTTTTAATTCACTTGCTTCTCCAGTTAGTAGTGTCTGTTCATATCTTCGCGATATAAATTGTACTTGAAAGTATGTTCTTTAGCTCATGTTGTTAGAACATGATGCTAATGAAGCTAGGGTTACAAGTTCAGTCTTCCTGTGCTCTGTTTGGACATGCTCTTCTGTACCATAGCCACAGACTACACCCCTACCCTGGCTGGCTGTCTGTCTTGCTAATGCATGCCTTGCTCACAAGGACAACTGGGCTAGGGTAGCCTGGCTCAGTTTTGTTCATGTATTCATTCAGTTCATATTTATTGAGCATCTACCGTGTCATTTGTGTATGTGGGTGAATTCTATGGGATTTGAAACAGAGAAAATTGAACAACTGTGCCCTTTCTACCATGCTTGGTTGCCATCTTGATCCAGTAGTCCCCATTATTCTGAATGAATGAGTGTCTACTGTAGAGCAGATAGAATTTCTTAACTTTTTATTTAGTCATGTTATTGATCCTTCTTACTTTATCATGGCCACCAATTTGTATTTATTTTTTCTAAAATGGCTTTTATAGGGAAGACTAAGTTCCCCATCACCTCTACATATTTATAGATTTACTATTAGGTACTATTAAGCGTGGTAATATGTTCTTTGCAGTATGCTTTCTAACCACCCGGCTGTTGGCTAAGTCTCAGAGCTTTGCTTCCACCCAGAAAACATATGTGCCTTTAATGTGAAATCATTAATATCTGATAGTTGGTTCTTTTTATAAAACCTCATGTAAAAATACAAAAGGAAGTGACATGAAAGAGATCTTATTTTGCATGTAAATAAGATATAAACTATAATAAAATATTGCTGGGTAGAGAAATAATCAATGTGCATTAAATGTTTCCATTAATGGATATGTATTCTCTTATTCTCAAACAGATTTCTCTTAAT
|
AAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGTCTCATATTGCTGTTCAGGAACAAAAGTCTCTTGCAGTATTTTTGTTAAGGGAATTCTGTGCATAATATGTAACAAGAGCCACAGTTTGACCTCTGGTATAACCAAATCTGTAGGCAGCTAGGAGTTGTGTGATGGGATTATTCACAATTCTTGTTCTACAAAGCTCTTAAGATAATTGAAAAGTTTTGTTGAATGAGATTTGAGAATCAGATCAAACCCATTTGCTTTATATGAAAAGGTAGTGAATATAAAGTAAAATCGTAGAACCCTAGACTTGAGAAGAACCATCTAGTCACCACCTTCACCATGAAAAACCTGGATTGGTTTCCTTTTTTAGTCTTAATCAACGGTTTGCATATTCATGAACAGATTTGACGCTCTGGAATTTGGGTGCAGGAGTTTAGCTTTAGAACATATGTGACATAGTATATCCTGTTGCTTCCATAAGTCACGTTTAGACTGTTGAGTTTTCTAAGGCTTTGCACTACTCCCATTTTAATGGCCTCAGTTCTGGACTAGCTACTGAGGCGGAAGAAGGACCATGAAAACATTTTGCATGTTTTGGAGACCTCTGTAAATGATGTATTAAAATATTTTTACCTTCTTTTTGAAGTATTACTGATAACATTAAGACTTTTTTTTAGTTCAAAGCTTCTAGCTTGAAACAAAACAGTTCCTGTTTTTAAGATTGCATGCATATATGAACTGTTGAAGGTATTTTGTTCTAGACTGCCATTATATTCAATCTTTTTTTCTTATAACTTTCTGATGGGACTTATAACTGTCTAATTGGACTCAGCATCAGACTCAACATCTGTTTGGTCCGTGGTCTCTAGGGCCAGACCTAAAGAAAAGGTACAATGTCTGTCCCCAAAGCAAACACCCACATAGCTCACTTTTGTGTGTGTATCTGTGCATTTGTGAGAATGGGGAGAGAATATTCCACCACCTCTGGATCTTTTCCATACTAAATACAATTTTGTGGGGGAGATGATAGGATGGGAGGTGTCTTCTGTGTCTCCCTGTCACATTAGCAGTCTGCTTAAAATGCAAATGACTGTATTTCTCACACAAACTATAGGGCAATCATCGATTCCGAACAACTTGATTGAAAAAAAACTCATCGGAGGTGGCGAAATGAGCCTCCCCAGAGGGATCTTCCTTTACTTCCCCTCATGATTTTCTTCATGAGCTCAGCCTCTTTCCACTTTGGAGCAGACTGAAGCATTCACTCTATTTTGAGCAGGGAGAGGAAGTTGCCTGATCTCTTTTCTACCCTCAGTTAGAGCCAGATTAAGATGAAGCAGGGTATTTTTTTAGGGGATGGGAGGGGTGCATGGGCGGGGGATGAACTTGGGTTTATCTGTGTGGTACAGGTAGTAAAGAATATGTGGACACAAAATAAAGGAAGACGAATTCCTTTGAATTCAAGAGAATCTGTATTTACAAAGTATAGTTTAGAACTGTAAAAACCACCAGTGTTTTGTCTTGTGTTCTTACGTTGTCTGGATTATTGATTTGGCACCCTTATTATAAATAGGTAGACCGTCATCACCCTGTGGTCAAAGAGGCATGTGCACATATTGCTAGAAGGAAGAAAAGAGGCCCAAGGCCAAATCCAGAGATGAGGTCAAGCAATACTGACTTGAATTTCTTTTTTTCCTCACAGGGCTTGCCCAATCACCATTGGAGAATAACTTTTATTAATAAGTGCTATGAGCTCTGTGACACCCTGCTCTTTTGGTGGTTCCGTATCGTGCCTCAGATGATGACCTCCGGAGAGTTGCAACTTTTAGGTCCCGAAATCGAATTCCAGTGAGTACTGCAATTAACGTTTCTCTTGAAGAGCACCTTTTAGTCCATAAGAATGGTAGTCATATAACTTAGAGAAACGGTCCTTTTGGAATTCTATCCCAAAAAATACTTACTAAGTGCTTTGTGAGTACAAAGTACCATACCAGACTGGAGAAGAAGTGTGCCGTCACCTGCCTTCTAGGAGCTTGCAACTAAGGATCAAGAATGAACGCAAGTAAAGAGCTCTCTACGAGAGAGGGGCTGCAAGTAATGGGAACCAAGTGCTGTGTGGAAGGAAGCAAGGAAAGACAGGCTCTTTGTGGCTTTTGTCTTTGTGGCACAGTACATGATACTATATGATAGGCTCTTGATAAATGTCAGATAAATCATGCTGGAAAGAACACACTGTCTTGTTATAAAATGTGTCAGCACAGACTTTGACATACACTCACCACGAGCTCACCCCCATCACCTTTGCAGGCTGCCCCAATACCATTGTCTAACTGGAGTCAAGTATAGATTATTCCAGACACTATCCATACGGTATCACTGCACCTAGTTCACAAAGCTCTCTTTTGGTCCTTAAATATTAATGGACATGTGATACTATCTAACATTGACAAAAATTGACTAAAAATTTAGGTATTCTCCCCTGCTAATTTTCAGGGTCTGTCATAAGTACCTTGGGGTTTTTTTTTTCCCCTAATAAGTAAATGTTTAAAAACAAAGGTTGAAGAAATTAAGACTTAATGTCACCTTGCCTTTTTCAAGTCTAGACATTTTTTTTCCTTAAAAGGATATTTGTGCAAAACTTTTGTATTGTCAGCCTAATATGAATTGTAATTTTTTTTAATTCACTTGTTATACACTTCTAGCCATAAAACCGCAGAAGTGATGCTGTGTTCTCAGTGCACCACCTTAGGAGACATGCTGTTGATTTGTCCCGTTATTAGTGATGTTAACTGTGATTATTCTGCTAAGGCAGTGTCTGTCATGTTTTTCCACTATAGCACTACTATTTTACCCATTAAAATTAATAAATGCTTTATGTAATGATTTTTTTAATTCACTTGCTTCTCCAGTTAGTAGTGTCTGTTCATATCTTCGCGATATAAATTGTACTTGAAAGTATGTTCTTTAGCTCATGTTGTTAGAACATGATGCTAATGAAGCTAGGGTTACAAGTTCAGTCTTCCTGTGCTCTGTTTGGACATGCTCTTCTGTACCATAGCCACAGACTACACCCCTACCCTGGCTGGCTGTCTGTCTTGCTAATGCATGCCTTGCTCACAAGGACAACTGGGCTAGGGTAGCCTGGCTCAGTTTTGTTCATGTATTCATTCAGTTCATATTTATTGAGCATCTACCGTGTCATTTGTGTATGTGGGTGAATTCTATGGGATTTGAAACAGAGAAAATTGAACAACTGTGCCCTTTCTACCATGCTTGGTTGCCATCTTGATCCAGTAGTCCCCATTATTCTGAATGAATGAGTGTCTACTGTAGAGCAGATAGAATTTCTTAACTTTTTATTTAGTCATGTTATTGATCCTTCTTACTTTATCATGGCCACCAATTTGTATTTATTTTTTCTAAAATGGCTTTTATAGGGAAGACTAAGTTCCCCATCACCTCTACATATTTATAGATTTACTATTAGGTACTATTAAGCGTGGTAATATGTTCTTTGCAGTATGCTTTCTAACCACCCGGCTGTTGGCTAAGTCTCAGAGCTTTGCTTCCACCCAGAAAACATATGTGCCTTTAATGTGAAATCATTAATATCTGATAGTTGGTTCTTTTTATAAAACCTCATGTAAAAATACAAAAGGAAGTGACATGAAAGAGATCTTATTTTGCATGTAAATAAGATATAAACTATAATAAAATATTGCTGGGTAGAGAAATAATCAATGTGCATTAAATGTTTCCATTAATGGATATGTATTCTCTTATTCTCAAACAGATTTCTCTTAATNNNN
|
pathogenic
| 339,951 |
Evaluate if the mutation on chromosome X at position 150645815 in MTM1 (myotubularin 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic
|
TGTAATAAACATCTTTCAGTGGTTAGATATTTGTGTACTTAATTATCTATGGCTTCTAGATATGAATTTTAATAAGAATAATACAGTGCCATATACTGTAAAAGCACTCATGGTAGTTGACACTGTGAAATGAACATTATTTGTACCTGTTTAGCTCTGTAATAAGCATCCTTTTCAAAAAGTAGTAAGAATCCCCCCTCCTGCAAAGAAATTAAGAGGAGAAACAACTCAGAGGAGTAGCATTTCCTAACATGGCACCACAAAGAGAATAGGGGTCGGGAGGCCATTGCCTATGGCCCGACTGAAATTTACAACTTGATGAGGGTCTTTCTCAATAATAAATAATTTTTATTTTTAATAATTTCTCAAATTATTAAAATAATAAAAAATATTAAAAAATATTTTAATAATTTCTCAAATAATAAATCTTTTAAATGTGTAGCAAATTGCTCCTTTAAAGTGGTCTCATGTCTCTTGTCTCTCTTGATACCAGGGCCATAGAGGGAAAGGAAGGCAGATCTCATATGTGCTGTGCATTATAGATTGGAAGGTGGAGGTTTAGGTCCCACTGGTACCTTCTCCAAGGCTCCCAGTTCTGAGCCTTTGGACTCTTATTAGGCAGGGGCTACAATGGTGTTTTTAATTGATCTCTAGCATGGTGCAAGGACCATATTTGTTCTGAGAATGAATAAATATTACTGTATAATCTTTTCTCAATAACCTGTTGTCATTATAAACACTCATTTTTATAAACATCAATGTTTGTCATTTGCCATCATGGGGTAGGTAACTTCAGAGACATCAGGGAATTTGGTGTTATGTTGAGTGAGCCCACATGATTAAGCTTCTTTCGTTCTTTGTATCTGCATTTTGTAGTTTTTGCTAACTGACTTTCCTGGCTGCTGGGCCTGCCTCTATAAGCTAACACGAGCCAGTGTTTATTGCAGACTTTCTGGGCATTCTTCTTCAGGCCACCGAGCAACCCTATGAGATTATATTATTCTCCCCATTTTATGGAAGAGGAAAGGGAAGCCAGAGAAGCTGCGAGTGAAATGCCTGAGGTTAGAACCACGGCAGAGATGGCACTAGACCCCAAAGTCCACATTGTCGCCCACTGTGCTGCAGTTCTCCAGCTTCCCATTTTTAATAGCTTTATTGAGATCTACTTCACATACCAAACAATTTCCCATCTCAAGTGTACAATTCTGTCGTTTTTGGTATATTACATTATTAGCTACCTTTTACGTGTATTACTTTTCACATGCTATGAGCTTGGCAACCAGGGAGCAAATGTGCTAGACTTGTGTATAAAGTTAGAGAAGATAGGTTCTGAATCAGGGCTTGATGAGGTCTCCTAGGCATTGGATGTCCACACTGCACTGTGGAGACGAGCAGATCTATGCTCTTTGGGCTGTCCTGAGATCAGTTTTGCTCTGCTCAGGTTTTCTTCCTTCCTGTGTTAGATTCTAGAATTGAGACTGTTGGGAAAATGATCTGTAGACAGAGTTGGTATTATGAGAAACATATTGTACCAGAGACAATTTCCTTTACCTCTCACTTTTTGCCAAAGCTGCTTCTATATGATAACAAATCCAGTGCAAGCTACATAATTAAAATAGGATCAAGCTTTCAATTTCCTTTAAGTGATATAACTATTTTTAGGTAAGCAATTAATTTATATTGGATGTGGTGCTAATTAAGAAAAGACTGGTAATTGTACTTGTTTCTGAGTTATATTATTAAATGCATGTCTCTGGGCACACACACGCAGTGAGATTGCAAGTGAACAAGTATTCTATTTTAGCACAATCAGATTCACTTCTTGATAACCGTCAGTGCTTTACTGTTTTACAGTTTTAATTGTTTGCTTGGAGATTTGCTTTCTTGATAGCTTAAACTTTCTGACTTAACCATAGGTGCTGTCATGGATTCATCCAGAAAATAAGACGGTCATTGTGCGTTGCAGTCAGCCTCTTGTCGGTATGAGTGGGAAACGAAATAAAGATGATGAGAAATATCTCGATGTTATCAGGGAGACTAATAAACAAATTTCTAAACTCACCATTTATGATGCAAGACCCAGCGTAAATGCAGTGGCCAACAAGGTGAGTGGACTTAATGATGTGCTGGACACTTAGCTTACATATGGAGTGCAGTGTTTTCTGTGAATGTTTTTGCCATGATATAGAAACACGTGGGTTTAAATTAATAGTTAAGAAAACCAGTTCTCTTAGACAGAAAGTAGTTTTAATCACAAAACTTAAACAAAATTGAATATATCAAAATCAAATGCAAATAAACTTTAGGTAAATAGGCATGTCTAGACTGTAATGAAATTGGGTTTTGGCCAGGACCTTGGCAGGAAAAAGTTAGATTCTCTTTAAAGCCCTTTCAGCTGTGGATGATCACTCATTGTGTACACTATTGGGGCATCTGTAAGAAGCTATGGGAAGCTGTAATTATTAAAATACTAAATTTGCATGCTTACTCAAACACTCCCTCCCCCATACCCGTATATACTCACATATGTGTATTCTCATTTACATAAGATAATTCAAGAAATGAGTAGGTCCACGTATGTGAGTTTTCCAGGCACAAACATATACACAAAGTTGACCGTTTTCAAAGAAGTCTGTCTCAATTGACTTTTTGCTGTAAGCAGAATATGCTGAATGCACTTAAAATTGATTAGGGTCATCATGAACATCAGTGACTGCATAGTGTTGCCTTCAGAAGCTGCTGCAAGGTGTATGGCTGTTTGCTTGCTCTACTAAATGGCCCCAGATTGATGTGCATTTTACGTTCTATTTCTCCTTTTTGTTGTTTTTCTTTTCCTTCTCCTCCCATCATTGCTGTCACTTTCAAATGCTCACGAGGGGCCTGCCCCAAATTGCTCACTCCCATTCCAGCTTTCAGATTTATTGTTTCTCCTCTGCTGTAAGCTTAAATTTCATCATATTTAATACATTGCTTATCCTGAGGTTATTTGTCTAGCATCTTCAATTATTCAGAACATAAGACAAGAACCAGAAAGCAAAACAAGTTCTTGAGCAGCTCAGATAGGTGCAGCAGCTTCCTAATAGAATCTGTGATATCTGTCTGGACTAGGATGTGTCAGACTGCATGCATGCAGAGCTCAACTCTTCATTATTTGTGCACAGATCTTCTGTCCTACACATTTAATCCTGGGCCACCTCCCCATCCCCATGCATGCTTTTAAACCAGCTATTTGTTACTACGGTTGTTTTTTGGTCCAGAGATGATTTTGAAATTATATGTGAAGCAGTCAGTAAGTTAAATTGACAAGTAAATTAGGAATCGTAAGTGAAACACTCAGGAAATTAAATCTAACTCTAAATATCTTCTTGGATTGTCCTTAATTTTATATATCTGTGTACCTATTATCTTTCATATATATTTCAGGGTGAATATATATATATATATATATATATATAGCAATATTTTCATGTACATATTTAGCCTGAAATAGATATGATATAGCATTACAATGAAGTATTTACAAAGAATATTTTAGAATATTAAAATGCATGAAATGGATACACTAATTAAAGCTCATTCCAGCAACAGAATTCCTGAAGGCCTTTTTAACACTCAGGAAACAAGCTTCTATTTCTAGTCCTCTTAGGAGTCGAGGGAAGGAAAATATCAGGGAAAAAGCCTAAGCTTTACAGATCTCTGTCATTCTTTTAAAAAGCTCACTTGTTTCTCCCTTCCTCTGCTGTGTCTCTCCGCTAGTCGCTAATATCCATAGCAACAGGCCCGTAGACCTTTACATCATCGTCCTAGGTAATCTACATTGTTCTTTTTTGTTGAAGAAAGGAAAACCAAAAAGAATACTTCAAAAGTAACCAGAGATGTAGAATTTGAACTTTCAGGAACTCAGTGTGTGCTTGACTAATTGATTGTTGCCCTTTCTGACCTTCTGTTCTCCTTGGACCTAATTGTTCCTCCCTTACGGATATTTAGAAATTTACATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTAC
|
TGTAATAAACATCTTTCAGTGGTTAGATATTTGTGTACTTAATTATCTATGGCTTCTAGATATGAATTTTAATAAGAATAATACAGTGCCATATACTGTAAAAGCACTCATGGTAGTTGACACTGTGAAATGAACATTATTTGTACCTGTTTAGCTCTGTAATAAGCATCCTTTTCAAAAAGTAGTAAGAATCCCCCCTCCTGCAAAGAAATTAAGAGGAGAAACAACTCAGAGGAGTAGCATTTCCTAACATGGCACCACAAAGAGAATAGGGGTCGGGAGGCCATTGCCTATGGCCCGACTGAAATTTACAACTTGATGAGGGTCTTTCTCAATAATAAATAATTTTTATTTTTAATAATTTCTCAAATTATTAAAATAATAAAAAATATTAAAAAATATTTTAATAATTTCTCAAATAATAAATCTTTTAAATGTGTAGCAAATTGCTCCTTTAAAGTGGTCTCATGTCTCTTGTCTCTCTTGATACCAGGGCCATAGAGGGAAAGGAAGGCAGATCTCATATGTGCTGTGCATTATAGATTGGAAGGTGGAGGTTTAGGTCCCACTGGTACCTTCTCCAAGGCTCCCAGTTCTGAGCCTTTGGACTCTTATTAGGCAGGGGCTACAATGGTGTTTTTAATTGATCTCTAGCATGGTGCAAGGACCATATTTGTTCTGAGAATGAATAAATATTACTGTATAATCTTTTCTCAATAACCTGTTGTCATTATAAACACTCATTTTTATAAACATCAATGTTTGTCATTTGCCATCATGGGGTAGGTAACTTCAGAGACATCAGGGAATTTGGTGTTATGTTGAGTGAGCCCACATGATTAAGCTTCTTTCGTTCTTTGTATCTGCATTTTGTAGTTTTTGCTAACTGACTTTCCTGGCTGCTGGGCCTGCCTCTATAAGCTAACACGAGCCAGTGTTTATTGCAGACTTTCTGGGCATTCTTCTTCAGGCCACCGAGCAACCCTATGAGATTATATTATTCTCCCCATTTTATGGAAGAGGAAAGGGAAGCCAGAGAAGCTGCGAGTGAAATGCCTGAGGTTAGAACCACGGCAGAGATGGCACTAGACCCCAAAGTCCACATTGTCGCCCACTGTGCTGCAGTTCTCCAGCTTCCCATTTTTAATAGCTTTATTGAGATCTACTTCACATACCAAACAATTTCCCATCTCAAGTGTACAATTCTGTCGTTTTTGGTATATTACATTATTAGCTACCTTTTACGTGTATTACTTTTCACATGCTATGAGCTTGGCAACCAGGGAGCAAATGTGCTAGACTTGTGTATAAAGTTAGAGAAGATAGGTTCTGAATCAGGGCTTGATGAGGTCTCCTAGGCATTGGATGTCCACACTGCACTGTGGAGACGAGCAGATCTATGCTCTTTGGGCTGTCCTGAGATCAGTTTTGCTCTGCTCAGGTTTTCTTCCTTCCTGTGTTAGATTCTAGAATTGAGACTGTTGGGAAAATGATCTGTAGACAGAGTTGGTATTATGAGAAACATATTGTACCAGAGACAATTTCCTTTACCTCTCACTTTTTGCCAAAGCTGCTTCTATATGATAACAAATCCAGTGCAAGCTACATAATTAAAATAGGATCAAGCTTTCAATTTCCTTTAAGTGATATAACTATTTTTAGGTAAGCAATTAATTTATATTGGATGTGGTGCTAATTAAGAAAAGACTGGTAATTGTACTTGTTTCTGAGTTATATTATTAAATGCATGTCTCTGGGCACACACACGCAGTGAGATTGCAAGTGAACAAGTATTCTATTTTAGCACAATCAGATTCACTTCTTGATAACCGTCAGTGCTTTACTGTTTTACAGTTTTAATTGTTTGCTTGGAGATTTGCTTTCTTGATAGCTTAAACTTTCTGACTTAACCATAGGTGCTGTCATGGATTCATCCAGAAAATAAGACGGTCATTGTGCGTTGCAGTCAGCCTCTTGTCGGTATGAGTGGGAAACGAAATAAAGATGATGAGAAATATCTCGATGTTATCAGGGAGACTAATAAACAAATTCTAAACTCACCATTTATGATGCAAGACCCAGCGTAAATGCAGTGGCCAACAAGGTGAGTGGACTTAATGATGTGCTGGACACTTAGCTTACATATGGAGTGCAGTGTTTTCTGTGAATGTTTTTGCCATGATATAGAAACACGTGGGTTTAAATTAATAGTTAAGAAAACCAGTTCTCTTAGACAGAAAGTAGTTTTAATCACAAAACTTAAACAAAATTGAATATATCAAAATCAAATGCAAATAAACTTTAGGTAAATAGGCATGTCTAGACTGTAATGAAATTGGGTTTTGGCCAGGACCTTGGCAGGAAAAAGTTAGATTCTCTTTAAAGCCCTTTCAGCTGTGGATGATCACTCATTGTGTACACTATTGGGGCATCTGTAAGAAGCTATGGGAAGCTGTAATTATTAAAATACTAAATTTGCATGCTTACTCAAACACTCCCTCCCCCATACCCGTATATACTCACATATGTGTATTCTCATTTACATAAGATAATTCAAGAAATGAGTAGGTCCACGTATGTGAGTTTTCCAGGCACAAACATATACACAAAGTTGACCGTTTTCAAAGAAGTCTGTCTCAATTGACTTTTTGCTGTAAGCAGAATATGCTGAATGCACTTAAAATTGATTAGGGTCATCATGAACATCAGTGACTGCATAGTGTTGCCTTCAGAAGCTGCTGCAAGGTGTATGGCTGTTTGCTTGCTCTACTAAATGGCCCCAGATTGATGTGCATTTTACGTTCTATTTCTCCTTTTTGTTGTTTTTCTTTTCCTTCTCCTCCCATCATTGCTGTCACTTTCAAATGCTCACGAGGGGCCTGCCCCAAATTGCTCACTCCCATTCCAGCTTTCAGATTTATTGTTTCTCCTCTGCTGTAAGCTTAAATTTCATCATATTTAATACATTGCTTATCCTGAGGTTATTTGTCTAGCATCTTCAATTATTCAGAACATAAGACAAGAACCAGAAAGCAAAACAAGTTCTTGAGCAGCTCAGATAGGTGCAGCAGCTTCCTAATAGAATCTGTGATATCTGTCTGGACTAGGATGTGTCAGACTGCATGCATGCAGAGCTCAACTCTTCATTATTTGTGCACAGATCTTCTGTCCTACACATTTAATCCTGGGCCACCTCCCCATCCCCATGCATGCTTTTAAACCAGCTATTTGTTACTACGGTTGTTTTTTGGTCCAGAGATGATTTTGAAATTATATGTGAAGCAGTCAGTAAGTTAAATTGACAAGTAAATTAGGAATCGTAAGTGAAACACTCAGGAAATTAAATCTAACTCTAAATATCTTCTTGGATTGTCCTTAATTTTATATATCTGTGTACCTATTATCTTTCATATATATTTCAGGGTGAATATATATATATATATATATATATATAGCAATATTTTCATGTACATATTTAGCCTGAAATAGATATGATATAGCATTACAATGAAGTATTTACAAAGAATATTTTAGAATATTAAAATGCATGAAATGGATACACTAATTAAAGCTCATTCCAGCAACAGAATTCCTGAAGGCCTTTTTAACACTCAGGAAACAAGCTTCTATTTCTAGTCCTCTTAGGAGTCGAGGGAAGGAAAATATCAGGGAAAAAGCCTAAGCTTTACAGATCTCTGTCATTCTTTTAAAAAGCTCACTTGTTTCTCCCTTCCTCTGCTGTGTCTCTCCGCTAGTCGCTAATATCCATAGCAACAGGCCCGTAGACCTTTACATCATCGTCCTAGGTAATCTACATTGTTCTTTTTTGTTGAAGAAAGGAAAACCAAAAAGAATACTTCAAAAGTAACCAGAGATGTAGAATTTGAACTTTCAGGAACTCAGTGTGTGCTTGACTAATTGATTGTTGCCCTTTCTGACCTTCTGTTCTCCTTGGACCTAATTGTTCCTCCCTTACGGATATTTAGAAATTTACATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACN
|
pathogenic
| 339,958 |
Clinically, how would you classify the variant at chromosome X, position 150649796, gene MTM1 (myotubularin 1): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
ATTTAGAAATTTACATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGGCCCACTTAAATAATAAATTGCTTATTTATTAGCTAATAACTTTTTTAAAACAACACTGTGAATGTTTACTGTCTACTTACCAGTGATACTATTTAGAGCACGCTCTAAAGAAATATTTCTGCCTAACTATATTTTCTTGCCTAGAGTCTTTAGAGACCAAGATCTCTGGCTTTTAACATAGGTCTCCAAGTTTGAAACCTAAATGGATGGTAGCCTTACTTCTGCAGGAAACCTTTTTCTGTGACTACCTCCAGGAAAAAACAAAAACAAAAAACAAAAAAAAACCTAAGTTTCTTTGGCCCTTCTATCCATGGCTACAAGCTTATATTCCTTCCATTGTTGTTAATAAAGAGAAAATAGGCATATTGTAGCTATGGCACATTTGTCTGGTGACTTCTCCTTTCCTCTTCAGCCCCAGGCAGATGTTTCCCTGTTCTGTTCCTACAGGCACTCTGGAGTTAGTATAATATTGTTTTCTTTGCAAGTCTCAGAACTGTTTAACTTTTTCTTAAAGGGCCAAAGGCCACGTGTTCTATGCCATTTCAAAACGTTTAAGCAGAATGCAGCCAGATTCCTAAATGAAACCATAGCATCTCTTTTTGTCAGTGTGGAAAATGGGCACTCTTCACCATGCTGTGAAGATGAACCAAAGCCTGCCCTGGCAAGTTAATACTTGTAGTTGCTGCAGTAGGCGGTAGCCATCTTGTCTCCTCTTGAAATCTTCTATTCTTTCAGAGCTCACTATGTGCAGTGCTCTCTCATTGGTGTTTGCATAGCAGAGAAATAGTCATGGTTTAGTAGAAAAAGTTCGAGCTTTGAAGCCAGACTTAGACTTAAATTCCACTTATTACCTATGTGACTTAGGGGATAGTTAACTAGCGTCTCTGAGTTTCTGTTTTCTCATTGGCAAAATGGGGACAGTAATACCTATCTTGCAGCACTGCTGAAGAGAGAAAATTATGTAAAGCAAGAGTCACAGTACCTGGGATGTCATAGGAGTTCATTAAACAGTGGCTGGCATTAGCTATTATAATAGAGTGTGGTTCCTTTAATAGTATGAGACCTAGGTAATATTATCCCCTATTTTACAGGAGAGGATGTTGAGGCTCAGAAATGTTAAGTGCCTTGTCCCAGATCACATGGCAAGGAGAAGCTGAAGCTGAGCTATCTCAGCCTGGGTCTGTCTCCAAAGCCTGTTGTTTTCCTCTAATGCATCACGTCCTACGTGAGTGCTGTTACAGTGCCAGAGGTGCCTGCTGCTGCCTCAGTCTGGCTGCCTCCCGCCTTCCCCCTGAAGAGTACTATTAGAGATACAAAACTAATGGAGAACGAGGACCTTTCACAACCTGCTTTTGCCTTTCCAGATCCGGAAGAAGAGCTATTAATTATAGAGCATTTTGAGGATGATTTTTTTCCTTAGGAATACAGATTCCCCAGGAAATTGCCAGCCTTCTGTCTTTTTTTCAACTCAAAGTATGACTAATGTTTTTGAGACTTGTTGTTGGCTAGGAAGTCAAGTCACATCAATTATTCATTTAAATTGGAGGGTTTGGGGTTATTTGGAGGACAAATAACTAGAAATATTTGTGTAAGTTTCTGATGAAATAGAAAACTCAACTGATTGTTTGTATTTCATGTTGTTTCTTAGGCAACAGGAGGAGGATATGAAAGTGATGATGCATATCATAACGCCGAACTTTTCTTCTTAGACATTCATAATATTCATGTTATGCGGGAATCTTTAAAAAAAGTGAAGGACATTGTTTATCCTAATGTAGAAGAATCTCATTGGTTGTCCAGTTTGGAGTCTACTCATTGGTTAGAACATATCAAGGCAAGTATATTTTGTGAAAATATTTGTGTATATAAAAAAGAATGTAATTGTTTAGTGGAATGGACATATTTTTAAATTCCTTAAAAAAATGGACATTGAGAGATAAACTTTGTAGTAGAGGACCACATTTAACAGTTTTATGTTGCTTTATAATTTGCTTACCTAAATTAAAGATTTCACATCATCACTCCAGAATATATTTAGAGTTTGCAAAGACATCTCTTTCCATCTTTCAGTATTAAGTCGTTCAGTCTTTCATGCAGGTTTATTTAGGAATAGCCAATTTATTATCTAACCATTACTGGATATGACCTCTTTGGACCTAGATAAGAGGTGGTTAGTTTTGTTTTTTTTGTTGTTTTTTGTTTTTTTTTGTTTTTTGAAACTAATCTCAAATGACTTATTTTAAAGAATTGGTTTTGTGTTTTATTATGTTCAATCCTTTATCCTGATAAAGGCAGCAATAATCCTCCACTTTTTAAAAAGTACTTGAAGTGATCTGAGGGAACTAACACTTTTAGAAACCATTTAGTTCTGTACACAAACAAAAAGTCAGCTTTAATGTATAGGTGAATTATTAAGATATATTCTCTAGTCAAATTTTGTTTTCCAACTTACCCTTCATCTGCAAGTGGTGGCATGCTCTTCTCAGCTAGCGAGGCTCACCCTCTTGGTGTCATCCTACATTTCTTTAGCTCCTGCACTGAGCTAATCATCAAGTACCACAGGCCCTTCCTTGGAAACATGTCTGTCACTCTCATAGTCCCCTCACCCCCACACTGGCAGCATTCAAACTAGGCCATTACTACCCCTATCTTTGCACTCTTAAAATGGTTCTGTTTTCTCTTCCTTCCCTCTCGTATCTATTCTATAAGCAGCTGACAGAACATTTTCCTAAAATATCCTGCTATTCCAAAACCTCTGGGGGCTCCCAACAGCCTAACCTGACAGCCACACCCCTGTTCATCTGGCTTCTGCAGGTTTGTAGATTAACCTGCAACTACAGAAATCCTTACTCTTCCTAATTCCATCTCACTTATGCCTGTTTCTGGGCCTTTGTCTAGGTTGTCCTCTTTCTCTAGAATGGATTCCCCCATCCTTCCACTTTCTTCAAGGACCAGATCAAATCCCACCGAATCTCAAAGGGAATGTTCCTTCCACTGACTTTGCTATACATTATGTCTCTTTTTACACATACCTATCATCTCTTCAATCATATGTGAACCTCCTTAAAGTCTTATACCATTTTCCCATTCACAAGGTCTAACATAAAAACCAAAATAAAACTTTTTATTTTACAATAGTTTTCAATTTACAGAAAAATTGTAAAAGTGCTATAGAAAGTTCCCATATACCCAACCGAGTTTTTCTTCTTATTGACGTCTTACACTGCTCATAACTATGGCATGTCACATTGTACAGTATACTAGTCACAACTAATGAGCCAATATTTATACATTATTAACTTATTATTAATAAAGTTCATACTTTATTTGGATTTCCTTAGCTTTTACCTAATGTCCTTTTTCTGTTTAAGGATCCCATCCAGGTATCACATTATATTTAGTTGTCACAATTAGGTTGTTTTTTTTTTTTTTTTTTTTAACAATTCATTGGTGAGGATGACAAATTCATAAAAAAATGAAAGGCAAAATAAAAATAAGATTTGATTGGGACCTTGGTCAAGAGAAACACCATGCATTTGGGGTAGTGATGGGCCGTCCACCTGGTGGTGTCTAGCAGGCAGGCTTTCTGCAAAGTAGAACCCAAAATAGAGACTTAACACAGAGATGTTGGTTTGGCAGTCAGCTATTGGGCAACAAACGCAAGCAAAGCCCTTTAATGTAGATTCTGAGAGAGGATGTGTGGGGAAAAGATCAGAGGACTTTGAGTGGAGCTTTGGGCCTGTTTGTATTCAGGGCAGGAGGTGAGAAGTGGAGCT
|
ATTTAGAAATTTACATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGGCCCACTTAAATAATAAATTGCTTATTTATTAGCTAATAACTTTTTTAAAACAACACTGTGAATGTTTACTGTCTACTTACCAGTGATACTATTTAGAGCACGCTCTAAAGAAATATTTCTGCCTAACTATATTTTCTTGCCTAGAGTCTTTAGAGACCAAGATCTCTGGCTTTTAACATAGGTCTCCAAGTTTGAAACCTAAATGGATGGTAGCCTTACTTCTGCAGGAAACCTTTTTCTGTGACTACCTCCAGGAAAAAACAAAAACAAAAAACAAAAAAAAACCTAAGTTTCTTTGGCCCTTCTATCCATGGCTACAAGCTTATATTCCTTCCATTGTTGTTAATAAAGAGAAAATAGGCATATTGTAGCTATGGCACATTTGTCTGGTGACTTCTCCTTTCCTCTTCAGCCCCAGGCAGATGTTTCCCTGTTCTGTTCCTACAGGCACTCTGGAGTTAGTATAATATTGTTTTCTTTGCAAGTCTCAGAACTGTTTAACTTTTTCTTAAAGGGCCAAAGGCCACGTGTTCTATGCCATTTCAAAACGTTTAAGCAGAATGCAGCCAGATTCCTAAATGAAACCATAGCATCTCTTTTTGTCAGTGTGGAAAATGGGCACTCTTCACCATGCTGTGAAGATGAACCAAAGCCTGCCCTGGCAAGTTAATACTTGTAGTTGCTGCAGTAGGCGGTAGCCATCTTGTCTCCTCTTGAAATCTTCTATTCTTTCAGAGCTCACTATGTGCAGTGCTCTCTCATTGGTGTTTGCATAGCAGAGAAATAGTCATGGTTTAGTAGAAAAAGTTCGAGCTTTGAAGCCAGACTTAGACTTAAATTCCACTTATTACCTATGTGACTTAGGGGATAGTTAACTAGCGTCTCTGAGTTTCTGTTTTCTCATTGGCAAAATGGGGACAGTAATACCTATCTTGCAGCACTGCTGAAGAGAGAAAATTATGTAAAGCAAGAGTCACAGTACCTGGGATGTCATAGGAGTTCATTAAACAGTGGCTGGCATTAGCTATTATAATAGAGTGTGGTTCCTTTAATAGTATGAGACCTAGGTAATATTATCCCCTATTTTACAGGAGAGGATGTTGAGGCTCAGAAATGTTAAGTGCCTTGTCCCAGATCACATGGCAAGGAGAAGCTGAAGCTGAGCTATCTCAGCCTGGGTCTGTCTCCAAAGCCTGTTGTTTTCCTCTAATGCATCACGTCCTACGTGAGTGCTGTTACAGTGCCAGAGGTGCCTGCTGCTGCCTCAGTCTGGCTGCCTCCCGCCTTCCCCCTGAAGAGTACTATTAGAGATACAAAACTAATGGAGAACGAGGACCTTTCACAACCTGCTTTTGCCTTTCCAGATCCGGAAGAAGAGCTATTAATTATAGAGCATTTTGAGGATGATTTTTTTCCTTAGGAATACAGATTCCCCAGGAAATTGCCAGCCTTCTGTCTTTTTTTCAACTCAAAGTATGACTAATGTTTTTGAGACTTGTTGTTGGCTAGGAAGTCAAGTCACATCAATTATTCATTTAAATTGGAGGGTTTGGGGTTATTTGGAGGACAAATAACTAGAAATATTTGTGTAAGTTTCTGATGAAATAGAAAACTCAACTGATTGTTTGTATTTCATGTTGTTTCTTAGGCAACAGGAGGAGGATATGAAAGTGATGATGCATATCATAACGCCGAACTTTTCTTCTTAGACATTCATAATATTCATGTTAATGCGGGAATCTTTAAAAAAAGTGAAGGACATTGTTTATCCTAATGTAGAAGAATCTCATTGGTTGTCCAGTTTGGAGTCTACTCATTGGTTAGAACATATCAAGGCAAGTATATTTTGTGAAAATATTTGTGTATATAAAAAAGAATGTAATTGTTTAGTGGAATGGACATATTTTTAAATTCCTTAAAAAAATGGACATTGAGAGATAAACTTTGTAGTAGAGGACCACATTTAACAGTTTTATGTTGCTTTATAATTTGCTTACCTAAATTAAAGATTTCACATCATCACTCCAGAATATATTTAGAGTTTGCAAAGACATCTCTTTCCATCTTTCAGTATTAAGTCGTTCAGTCTTTCATGCAGGTTTATTTAGGAATAGCCAATTTATTATCTAACCATTACTGGATATGACCTCTTTGGACCTAGATAAGAGGTGGTTAGTTTTGTTTTTTTTGTTGTTTTTTGTTTTTTTTTGTTTTTTGAAACTAATCTCAAATGACTTATTTTAAAGAATTGGTTTTGTGTTTTATTATGTTCAATCCTTTATCCTGATAAAGGCAGCAATAATCCTCCACTTTTTAAAAAGTACTTGAAGTGATCTGAGGGAACTAACACTTTTAGAAACCATTTAGTTCTGTACACAAACAAAAAGTCAGCTTTAATGTATAGGTGAATTATTAAGATATATTCTCTAGTCAAATTTTGTTTTCCAACTTACCCTTCATCTGCAAGTGGTGGCATGCTCTTCTCAGCTAGCGAGGCTCACCCTCTTGGTGTCATCCTACATTTCTTTAGCTCCTGCACTGAGCTAATCATCAAGTACCACAGGCCCTTCCTTGGAAACATGTCTGTCACTCTCATAGTCCCCTCACCCCCACACTGGCAGCATTCAAACTAGGCCATTACTACCCCTATCTTTGCACTCTTAAAATGGTTCTGTTTTCTCTTCCTTCCCTCTCGTATCTATTCTATAAGCAGCTGACAGAACATTTTCCTAAAATATCCTGCTATTCCAAAACCTCTGGGGGCTCCCAACAGCCTAACCTGACAGCCACACCCCTGTTCATCTGGCTTCTGCAGGTTTGTAGATTAACCTGCAACTACAGAAATCCTTACTCTTCCTAATTCCATCTCACTTATGCCTGTTTCTGGGCCTTTGTCTAGGTTGTCCTCTTTCTCTAGAATGGATTCCCCCATCCTTCCACTTTCTTCAAGGACCAGATCAAATCCCACCGAATCTCAAAGGGAATGTTCCTTCCACTGACTTTGCTATACATTATGTCTCTTTTTACACATACCTATCATCTCTTCAATCATATGTGAACCTCCTTAAAGTCTTATACCATTTTCCCATTCACAAGGTCTAACATAAAAACCAAAATAAAACTTTTTATTTTACAATAGTTTTCAATTTACAGAAAAATTGTAAAAGTGCTATAGAAAGTTCCCATATACCCAACCGAGTTTTTCTTCTTATTGACGTCTTACACTGCTCATAACTATGGCATGTCACATTGTACAGTATACTAGTCACAACTAATGAGCCAATATTTATACATTATTAACTTATTATTAATAAAGTTCATACTTTATTTGGATTTCCTTAGCTTTTACCTAATGTCCTTTTTCTGTTTAAGGATCCCATCCAGGTATCACATTATATTTAGTTGTCACAATTAGGTTGTTTTTTTTTTTTTTTTTTTTAACAATTCATTGGTGAGGATGACAAATTCATAAAAAAATGAAAGGCAAAATAAAAATAAGATTTGATTGGGACCTTGGTCAAGAGAAACACCATGCATTTGGGGTAGTGATGGGCCGTCCACCTGGTGGTGTCTAGCAGGCAGGCTTTCTGCAAAGTAGAACCCAAAATAGAGACTTAACACAGAGATGTTGGTTTGGCAGTCAGCTATTGGGCAACAAACGCAAGCAAAGCCCTTTAATGTAGATTCTGAGAGAGGATGTGTGGGGAAAAGATCAGAGGACTTTGAGTGGAGCTTTGGGCCTGTTTGTATTCAGGGCAGGAGGTGAGAAGTGGAGC
|
pathogenic
| 339,963 |
Gene mutation in MTM1 (myotubularin 1) at chromosome X, position 150649810—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
ATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGGCCCACTTAAATAATAAATTGCTTATTTATTAGCTAATAACTTTTTTAAAACAACACTGTGAATGTTTACTGTCTACTTACCAGTGATACTATTTAGAGCACGCTCTAAAGAAATATTTCTGCCTAACTATATTTTCTTGCCTAGAGTCTTTAGAGACCAAGATCTCTGGCTTTTAACATAGGTCTCCAAGTTTGAAACCTAAATGGATGGTAGCCTTACTTCTGCAGGAAACCTTTTTCTGTGACTACCTCCAGGAAAAAACAAAAACAAAAAACAAAAAAAAACCTAAGTTTCTTTGGCCCTTCTATCCATGGCTACAAGCTTATATTCCTTCCATTGTTGTTAATAAAGAGAAAATAGGCATATTGTAGCTATGGCACATTTGTCTGGTGACTTCTCCTTTCCTCTTCAGCCCCAGGCAGATGTTTCCCTGTTCTGTTCCTACAGGCACTCTGGAGTTAGTATAATATTGTTTTCTTTGCAAGTCTCAGAACTGTTTAACTTTTTCTTAAAGGGCCAAAGGCCACGTGTTCTATGCCATTTCAAAACGTTTAAGCAGAATGCAGCCAGATTCCTAAATGAAACCATAGCATCTCTTTTTGTCAGTGTGGAAAATGGGCACTCTTCACCATGCTGTGAAGATGAACCAAAGCCTGCCCTGGCAAGTTAATACTTGTAGTTGCTGCAGTAGGCGGTAGCCATCTTGTCTCCTCTTGAAATCTTCTATTCTTTCAGAGCTCACTATGTGCAGTGCTCTCTCATTGGTGTTTGCATAGCAGAGAAATAGTCATGGTTTAGTAGAAAAAGTTCGAGCTTTGAAGCCAGACTTAGACTTAAATTCCACTTATTACCTATGTGACTTAGGGGATAGTTAACTAGCGTCTCTGAGTTTCTGTTTTCTCATTGGCAAAATGGGGACAGTAATACCTATCTTGCAGCACTGCTGAAGAGAGAAAATTATGTAAAGCAAGAGTCACAGTACCTGGGATGTCATAGGAGTTCATTAAACAGTGGCTGGCATTAGCTATTATAATAGAGTGTGGTTCCTTTAATAGTATGAGACCTAGGTAATATTATCCCCTATTTTACAGGAGAGGATGTTGAGGCTCAGAAATGTTAAGTGCCTTGTCCCAGATCACATGGCAAGGAGAAGCTGAAGCTGAGCTATCTCAGCCTGGGTCTGTCTCCAAAGCCTGTTGTTTTCCTCTAATGCATCACGTCCTACGTGAGTGCTGTTACAGTGCCAGAGGTGCCTGCTGCTGCCTCAGTCTGGCTGCCTCCCGCCTTCCCCCTGAAGAGTACTATTAGAGATACAAAACTAATGGAGAACGAGGACCTTTCACAACCTGCTTTTGCCTTTCCAGATCCGGAAGAAGAGCTATTAATTATAGAGCATTTTGAGGATGATTTTTTTCCTTAGGAATACAGATTCCCCAGGAAATTGCCAGCCTTCTGTCTTTTTTTCAACTCAAAGTATGACTAATGTTTTTGAGACTTGTTGTTGGCTAGGAAGTCAAGTCACATCAATTATTCATTTAAATTGGAGGGTTTGGGGTTATTTGGAGGACAAATAACTAGAAATATTTGTGTAAGTTTCTGATGAAATAGAAAACTCAACTGATTGTTTGTATTTCATGTTGTTTCTTAGGCAACAGGAGGAGGATATGAAAGTGATGATGCATATCATAACGCCGAACTTTTCTTCTTAGACATTCATAATATTCATGTTATGCGGGAATCTTTAAAAAAAGTGAAGGACATTGTTTATCCTAATGTAGAAGAATCTCATTGGTTGTCCAGTTTGGAGTCTACTCATTGGTTAGAACATATCAAGGCAAGTATATTTTGTGAAAATATTTGTGTATATAAAAAAGAATGTAATTGTTTAGTGGAATGGACATATTTTTAAATTCCTTAAAAAAATGGACATTGAGAGATAAACTTTGTAGTAGAGGACCACATTTAACAGTTTTATGTTGCTTTATAATTTGCTTACCTAAATTAAAGATTTCACATCATCACTCCAGAATATATTTAGAGTTTGCAAAGACATCTCTTTCCATCTTTCAGTATTAAGTCGTTCAGTCTTTCATGCAGGTTTATTTAGGAATAGCCAATTTATTATCTAACCATTACTGGATATGACCTCTTTGGACCTAGATAAGAGGTGGTTAGTTTTGTTTTTTTTGTTGTTTTTTGTTTTTTTTTGTTTTTTGAAACTAATCTCAAATGACTTATTTTAAAGAATTGGTTTTGTGTTTTATTATGTTCAATCCTTTATCCTGATAAAGGCAGCAATAATCCTCCACTTTTTAAAAAGTACTTGAAGTGATCTGAGGGAACTAACACTTTTAGAAACCATTTAGTTCTGTACACAAACAAAAAGTCAGCTTTAATGTATAGGTGAATTATTAAGATATATTCTCTAGTCAAATTTTGTTTTCCAACTTACCCTTCATCTGCAAGTGGTGGCATGCTCTTCTCAGCTAGCGAGGCTCACCCTCTTGGTGTCATCCTACATTTCTTTAGCTCCTGCACTGAGCTAATCATCAAGTACCACAGGCCCTTCCTTGGAAACATGTCTGTCACTCTCATAGTCCCCTCACCCCCACACTGGCAGCATTCAAACTAGGCCATTACTACCCCTATCTTTGCACTCTTAAAATGGTTCTGTTTTCTCTTCCTTCCCTCTCGTATCTATTCTATAAGCAGCTGACAGAACATTTTCCTAAAATATCCTGCTATTCCAAAACCTCTGGGGGCTCCCAACAGCCTAACCTGACAGCCACACCCCTGTTCATCTGGCTTCTGCAGGTTTGTAGATTAACCTGCAACTACAGAAATCCTTACTCTTCCTAATTCCATCTCACTTATGCCTGTTTCTGGGCCTTTGTCTAGGTTGTCCTCTTTCTCTAGAATGGATTCCCCCATCCTTCCACTTTCTTCAAGGACCAGATCAAATCCCACCGAATCTCAAAGGGAATGTTCCTTCCACTGACTTTGCTATACATTATGTCTCTTTTTACACATACCTATCATCTCTTCAATCATATGTGAACCTCCTTAAAGTCTTATACCATTTTCCCATTCACAAGGTCTAACATAAAAACCAAAATAAAACTTTTTATTTTACAATAGTTTTCAATTTACAGAAAAATTGTAAAAGTGCTATAGAAAGTTCCCATATACCCAACCGAGTTTTTCTTCTTATTGACGTCTTACACTGCTCATAACTATGGCATGTCACATTGTACAGTATACTAGTCACAACTAATGAGCCAATATTTATACATTATTAACTTATTATTAATAAAGTTCATACTTTATTTGGATTTCCTTAGCTTTTACCTAATGTCCTTTTTCTGTTTAAGGATCCCATCCAGGTATCACATTATATTTAGTTGTCACAATTAGGTTGTTTTTTTTTTTTTTTTTTTTAACAATTCATTGGTGAGGATGACAAATTCATAAAAAAATGAAAGGCAAAATAAAAATAAGATTTGATTGGGACCTTGGTCAAGAGAAACACCATGCATTTGGGGTAGTGATGGGCCGTCCACCTGGTGGTGTCTAGCAGGCAGGCTTTCTGCAAAGTAGAACCCAAAATAGAGACTTAACACAGAGATGTTGGTTTGGCAGTCAGCTATTGGGCAACAAACGCAAGCAAAGCCCTTTAATGTAGATTCTGAGAGAGGATGTGTGGGGAAAAGATCAGAGGACTTTGAGTGGAGCTTTGGGCCTGTTTGTATTCAGGGCAGGAGGTGAGAAGTGGAGCTCAGTGAAGGAGGCA
|
ATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGGCCCACTTAAATAATAAATTGCTTATTTATTAGCTAATAACTTTTTTAAAACAACACTGTGAATGTTTACTGTCTACTTACCAGTGATACTATTTAGAGCACGCTCTAAAGAAATATTTCTGCCTAACTATATTTTCTTGCCTAGAGTCTTTAGAGACCAAGATCTCTGGCTTTTAACATAGGTCTCCAAGTTTGAAACCTAAATGGATGGTAGCCTTACTTCTGCAGGAAACCTTTTTCTGTGACTACCTCCAGGAAAAAACAAAAACAAAAAACAAAAAAAAACCTAAGTTTCTTTGGCCCTTCTATCCATGGCTACAAGCTTATATTCCTTCCATTGTTGTTAATAAAGAGAAAATAGGCATATTGTAGCTATGGCACATTTGTCTGGTGACTTCTCCTTTCCTCTTCAGCCCCAGGCAGATGTTTCCCTGTTCTGTTCCTACAGGCACTCTGGAGTTAGTATAATATTGTTTTCTTTGCAAGTCTCAGAACTGTTTAACTTTTTCTTAAAGGGCCAAAGGCCACGTGTTCTATGCCATTTCAAAACGTTTAAGCAGAATGCAGCCAGATTCCTAAATGAAACCATAGCATCTCTTTTTGTCAGTGTGGAAAATGGGCACTCTTCACCATGCTGTGAAGATGAACCAAAGCCTGCCCTGGCAAGTTAATACTTGTAGTTGCTGCAGTAGGCGGTAGCCATCTTGTCTCCTCTTGAAATCTTCTATTCTTTCAGAGCTCACTATGTGCAGTGCTCTCTCATTGGTGTTTGCATAGCAGAGAAATAGTCATGGTTTAGTAGAAAAAGTTCGAGCTTTGAAGCCAGACTTAGACTTAAATTCCACTTATTACCTATGTGACTTAGGGGATAGTTAACTAGCGTCTCTGAGTTTCTGTTTTCTCATTGGCAAAATGGGGACAGTAATACCTATCTTGCAGCACTGCTGAAGAGAGAAAATTATGTAAAGCAAGAGTCACAGTACCTGGGATGTCATAGGAGTTCATTAAACAGTGGCTGGCATTAGCTATTATAATAGAGTGTGGTTCCTTTAATAGTATGAGACCTAGGTAATATTATCCCCTATTTTACAGGAGAGGATGTTGAGGCTCAGAAATGTTAAGTGCCTTGTCCCAGATCACATGGCAAGGAGAAGCTGAAGCTGAGCTATCTCAGCCTGGGTCTGTCTCCAAAGCCTGTTGTTTTCCTCTAATGCATCACGTCCTACGTGAGTGCTGTTACAGTGCCAGAGGTGCCTGCTGCTGCCTCAGTCTGGCTGCCTCCCGCCTTCCCCCTGAAGAGTACTATTAGAGATACAAAACTAATGGAGAACGAGGACCTTTCACAACCTGCTTTTGCCTTTCCAGATCCGGAAGAAGAGCTATTAATTATAGAGCATTTTGAGGATGATTTTTTTCCTTAGGAATACAGATTCCCCAGGAAATTGCCAGCCTTCTGTCTTTTTTTCAACTCAAAGTATGACTAATGTTTTTGAGACTTGTTGTTGGCTAGGAAGTCAAGTCACATCAATTATTCATTTAAATTGGAGGGTTTGGGGTTATTTGGAGGACAAATAACTAGAAATATTTGTGTAAGTTTCTGATGAAATAGAAAACTCAACTGATTGTTTGTATTTCATGTTGTTTCTTAGGCAACAGGAGGAGGATATGAAAGTGATGATGCATATCATAACGCCGAACTTTTCTTCTTAGACATTCATAATATTCATGTTATGCGGGAATCTTTAAAAAAAAGTGAAGGACATTGTTTATCCTAATGTAGAAGAATCTCATTGGTTGTCCAGTTTGGAGTCTACTCATTGGTTAGAACATATCAAGGCAAGTATATTTTGTGAAAATATTTGTGTATATAAAAAAGAATGTAATTGTTTAGTGGAATGGACATATTTTTAAATTCCTTAAAAAAATGGACATTGAGAGATAAACTTTGTAGTAGAGGACCACATTTAACAGTTTTATGTTGCTTTATAATTTGCTTACCTAAATTAAAGATTTCACATCATCACTCCAGAATATATTTAGAGTTTGCAAAGACATCTCTTTCCATCTTTCAGTATTAAGTCGTTCAGTCTTTCATGCAGGTTTATTTAGGAATAGCCAATTTATTATCTAACCATTACTGGATATGACCTCTTTGGACCTAGATAAGAGGTGGTTAGTTTTGTTTTTTTTGTTGTTTTTTGTTTTTTTTTGTTTTTTGAAACTAATCTCAAATGACTTATTTTAAAGAATTGGTTTTGTGTTTTATTATGTTCAATCCTTTATCCTGATAAAGGCAGCAATAATCCTCCACTTTTTAAAAAGTACTTGAAGTGATCTGAGGGAACTAACACTTTTAGAAACCATTTAGTTCTGTACACAAACAAAAAGTCAGCTTTAATGTATAGGTGAATTATTAAGATATATTCTCTAGTCAAATTTTGTTTTCCAACTTACCCTTCATCTGCAAGTGGTGGCATGCTCTTCTCAGCTAGCGAGGCTCACCCTCTTGGTGTCATCCTACATTTCTTTAGCTCCTGCACTGAGCTAATCATCAAGTACCACAGGCCCTTCCTTGGAAACATGTCTGTCACTCTCATAGTCCCCTCACCCCCACACTGGCAGCATTCAAACTAGGCCATTACTACCCCTATCTTTGCACTCTTAAAATGGTTCTGTTTTCTCTTCCTTCCCTCTCGTATCTATTCTATAAGCAGCTGACAGAACATTTTCCTAAAATATCCTGCTATTCCAAAACCTCTGGGGGCTCCCAACAGCCTAACCTGACAGCCACACCCCTGTTCATCTGGCTTCTGCAGGTTTGTAGATTAACCTGCAACTACAGAAATCCTTACTCTTCCTAATTCCATCTCACTTATGCCTGTTTCTGGGCCTTTGTCTAGGTTGTCCTCTTTCTCTAGAATGGATTCCCCCATCCTTCCACTTTCTTCAAGGACCAGATCAAATCCCACCGAATCTCAAAGGGAATGTTCCTTCCACTGACTTTGCTATACATTATGTCTCTTTTTACACATACCTATCATCTCTTCAATCATATGTGAACCTCCTTAAAGTCTTATACCATTTTCCCATTCACAAGGTCTAACATAAAAACCAAAATAAAACTTTTTATTTTACAATAGTTTTCAATTTACAGAAAAATTGTAAAAGTGCTATAGAAAGTTCCCATATACCCAACCGAGTTTTTCTTCTTATTGACGTCTTACACTGCTCATAACTATGGCATGTCACATTGTACAGTATACTAGTCACAACTAATGAGCCAATATTTATACATTATTAACTTATTATTAATAAAGTTCATACTTTATTTGGATTTCCTTAGCTTTTACCTAATGTCCTTTTTCTGTTTAAGGATCCCATCCAGGTATCACATTATATTTAGTTGTCACAATTAGGTTGTTTTTTTTTTTTTTTTTTTTAACAATTCATTGGTGAGGATGACAAATTCATAAAAAAATGAAAGGCAAAATAAAAATAAGATTTGATTGGGACCTTGGTCAAGAGAAACACCATGCATTTGGGGTAGTGATGGGCCGTCCACCTGGTGGTGTCTAGCAGGCAGGCTTTCTGCAAAGTAGAACCCAAAATAGAGACTTAACACAGAGATGTTGGTTTGGCAGTCAGCTATTGGGCAACAAACGCAAGCAAAGCCCTTTAATGTAGATTCTGAGAGAGGATGTGTGGGGAAAAGATCAGAGGACTTTGAGTGGAGCTTTGGGCCTGTTTGTATTCAGGGCAGGAGGTGAGAAGTGGAGCTCAGTGAAGGAGGC
|
pathogenic
| 339,964 |
Gene MTM1 (myotubularin 1) variant at chromosome position 150649810 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
ATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGGCCCACTTAAATAATAAATTGCTTATTTATTAGCTAATAACTTTTTTAAAACAACACTGTGAATGTTTACTGTCTACTTACCAGTGATACTATTTAGAGCACGCTCTAAAGAAATATTTCTGCCTAACTATATTTTCTTGCCTAGAGTCTTTAGAGACCAAGATCTCTGGCTTTTAACATAGGTCTCCAAGTTTGAAACCTAAATGGATGGTAGCCTTACTTCTGCAGGAAACCTTTTTCTGTGACTACCTCCAGGAAAAAACAAAAACAAAAAACAAAAAAAAACCTAAGTTTCTTTGGCCCTTCTATCCATGGCTACAAGCTTATATTCCTTCCATTGTTGTTAATAAAGAGAAAATAGGCATATTGTAGCTATGGCACATTTGTCTGGTGACTTCTCCTTTCCTCTTCAGCCCCAGGCAGATGTTTCCCTGTTCTGTTCCTACAGGCACTCTGGAGTTAGTATAATATTGTTTTCTTTGCAAGTCTCAGAACTGTTTAACTTTTTCTTAAAGGGCCAAAGGCCACGTGTTCTATGCCATTTCAAAACGTTTAAGCAGAATGCAGCCAGATTCCTAAATGAAACCATAGCATCTCTTTTTGTCAGTGTGGAAAATGGGCACTCTTCACCATGCTGTGAAGATGAACCAAAGCCTGCCCTGGCAAGTTAATACTTGTAGTTGCTGCAGTAGGCGGTAGCCATCTTGTCTCCTCTTGAAATCTTCTATTCTTTCAGAGCTCACTATGTGCAGTGCTCTCTCATTGGTGTTTGCATAGCAGAGAAATAGTCATGGTTTAGTAGAAAAAGTTCGAGCTTTGAAGCCAGACTTAGACTTAAATTCCACTTATTACCTATGTGACTTAGGGGATAGTTAACTAGCGTCTCTGAGTTTCTGTTTTCTCATTGGCAAAATGGGGACAGTAATACCTATCTTGCAGCACTGCTGAAGAGAGAAAATTATGTAAAGCAAGAGTCACAGTACCTGGGATGTCATAGGAGTTCATTAAACAGTGGCTGGCATTAGCTATTATAATAGAGTGTGGTTCCTTTAATAGTATGAGACCTAGGTAATATTATCCCCTATTTTACAGGAGAGGATGTTGAGGCTCAGAAATGTTAAGTGCCTTGTCCCAGATCACATGGCAAGGAGAAGCTGAAGCTGAGCTATCTCAGCCTGGGTCTGTCTCCAAAGCCTGTTGTTTTCCTCTAATGCATCACGTCCTACGTGAGTGCTGTTACAGTGCCAGAGGTGCCTGCTGCTGCCTCAGTCTGGCTGCCTCCCGCCTTCCCCCTGAAGAGTACTATTAGAGATACAAAACTAATGGAGAACGAGGACCTTTCACAACCTGCTTTTGCCTTTCCAGATCCGGAAGAAGAGCTATTAATTATAGAGCATTTTGAGGATGATTTTTTTCCTTAGGAATACAGATTCCCCAGGAAATTGCCAGCCTTCTGTCTTTTTTTCAACTCAAAGTATGACTAATGTTTTTGAGACTTGTTGTTGGCTAGGAAGTCAAGTCACATCAATTATTCATTTAAATTGGAGGGTTTGGGGTTATTTGGAGGACAAATAACTAGAAATATTTGTGTAAGTTTCTGATGAAATAGAAAACTCAACTGATTGTTTGTATTTCATGTTGTTTCTTAGGCAACAGGAGGAGGATATGAAAGTGATGATGCATATCATAACGCCGAACTTTTCTTCTTAGACATTCATAATATTCATGTTATGCGGGAATCTTTAAAAAAAGTGAAGGACATTGTTTATCCTAATGTAGAAGAATCTCATTGGTTGTCCAGTTTGGAGTCTACTCATTGGTTAGAACATATCAAGGCAAGTATATTTTGTGAAAATATTTGTGTATATAAAAAAGAATGTAATTGTTTAGTGGAATGGACATATTTTTAAATTCCTTAAAAAAATGGACATTGAGAGATAAACTTTGTAGTAGAGGACCACATTTAACAGTTTTATGTTGCTTTATAATTTGCTTACCTAAATTAAAGATTTCACATCATCACTCCAGAATATATTTAGAGTTTGCAAAGACATCTCTTTCCATCTTTCAGTATTAAGTCGTTCAGTCTTTCATGCAGGTTTATTTAGGAATAGCCAATTTATTATCTAACCATTACTGGATATGACCTCTTTGGACCTAGATAAGAGGTGGTTAGTTTTGTTTTTTTTGTTGTTTTTTGTTTTTTTTTGTTTTTTGAAACTAATCTCAAATGACTTATTTTAAAGAATTGGTTTTGTGTTTTATTATGTTCAATCCTTTATCCTGATAAAGGCAGCAATAATCCTCCACTTTTTAAAAAGTACTTGAAGTGATCTGAGGGAACTAACACTTTTAGAAACCATTTAGTTCTGTACACAAACAAAAAGTCAGCTTTAATGTATAGGTGAATTATTAAGATATATTCTCTAGTCAAATTTTGTTTTCCAACTTACCCTTCATCTGCAAGTGGTGGCATGCTCTTCTCAGCTAGCGAGGCTCACCCTCTTGGTGTCATCCTACATTTCTTTAGCTCCTGCACTGAGCTAATCATCAAGTACCACAGGCCCTTCCTTGGAAACATGTCTGTCACTCTCATAGTCCCCTCACCCCCACACTGGCAGCATTCAAACTAGGCCATTACTACCCCTATCTTTGCACTCTTAAAATGGTTCTGTTTTCTCTTCCTTCCCTCTCGTATCTATTCTATAAGCAGCTGACAGAACATTTTCCTAAAATATCCTGCTATTCCAAAACCTCTGGGGGCTCCCAACAGCCTAACCTGACAGCCACACCCCTGTTCATCTGGCTTCTGCAGGTTTGTAGATTAACCTGCAACTACAGAAATCCTTACTCTTCCTAATTCCATCTCACTTATGCCTGTTTCTGGGCCTTTGTCTAGGTTGTCCTCTTTCTCTAGAATGGATTCCCCCATCCTTCCACTTTCTTCAAGGACCAGATCAAATCCCACCGAATCTCAAAGGGAATGTTCCTTCCACTGACTTTGCTATACATTATGTCTCTTTTTACACATACCTATCATCTCTTCAATCATATGTGAACCTCCTTAAAGTCTTATACCATTTTCCCATTCACAAGGTCTAACATAAAAACCAAAATAAAACTTTTTATTTTACAATAGTTTTCAATTTACAGAAAAATTGTAAAAGTGCTATAGAAAGTTCCCATATACCCAACCGAGTTTTTCTTCTTATTGACGTCTTACACTGCTCATAACTATGGCATGTCACATTGTACAGTATACTAGTCACAACTAATGAGCCAATATTTATACATTATTAACTTATTATTAATAAAGTTCATACTTTATTTGGATTTCCTTAGCTTTTACCTAATGTCCTTTTTCTGTTTAAGGATCCCATCCAGGTATCACATTATATTTAGTTGTCACAATTAGGTTGTTTTTTTTTTTTTTTTTTTTAACAATTCATTGGTGAGGATGACAAATTCATAAAAAAATGAAAGGCAAAATAAAAATAAGATTTGATTGGGACCTTGGTCAAGAGAAACACCATGCATTTGGGGTAGTGATGGGCCGTCCACCTGGTGGTGTCTAGCAGGCAGGCTTTCTGCAAAGTAGAACCCAAAATAGAGACTTAACACAGAGATGTTGGTTTGGCAGTCAGCTATTGGGCAACAAACGCAAGCAAAGCCCTTTAATGTAGATTCTGAGAGAGGATGTGTGGGGAAAAGATCAGAGGACTTTGAGTGGAGCTTTGGGCCTGTTTGTATTCAGGGCAGGAGGTGAGAAGTGGAGCTCAGTGAAGGAGGCA
|
ATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGGCCCACTTAAATAATAAATTGCTTATTTATTAGCTAATAACTTTTTTAAAACAACACTGTGAATGTTTACTGTCTACTTACCAGTGATACTATTTAGAGCACGCTCTAAAGAAATATTTCTGCCTAACTATATTTTCTTGCCTAGAGTCTTTAGAGACCAAGATCTCTGGCTTTTAACATAGGTCTCCAAGTTTGAAACCTAAATGGATGGTAGCCTTACTTCTGCAGGAAACCTTTTTCTGTGACTACCTCCAGGAAAAAACAAAAACAAAAAACAAAAAAAAACCTAAGTTTCTTTGGCCCTTCTATCCATGGCTACAAGCTTATATTCCTTCCATTGTTGTTAATAAAGAGAAAATAGGCATATTGTAGCTATGGCACATTTGTCTGGTGACTTCTCCTTTCCTCTTCAGCCCCAGGCAGATGTTTCCCTGTTCTGTTCCTACAGGCACTCTGGAGTTAGTATAATATTGTTTTCTTTGCAAGTCTCAGAACTGTTTAACTTTTTCTTAAAGGGCCAAAGGCCACGTGTTCTATGCCATTTCAAAACGTTTAAGCAGAATGCAGCCAGATTCCTAAATGAAACCATAGCATCTCTTTTTGTCAGTGTGGAAAATGGGCACTCTTCACCATGCTGTGAAGATGAACCAAAGCCTGCCCTGGCAAGTTAATACTTGTAGTTGCTGCAGTAGGCGGTAGCCATCTTGTCTCCTCTTGAAATCTTCTATTCTTTCAGAGCTCACTATGTGCAGTGCTCTCTCATTGGTGTTTGCATAGCAGAGAAATAGTCATGGTTTAGTAGAAAAAGTTCGAGCTTTGAAGCCAGACTTAGACTTAAATTCCACTTATTACCTATGTGACTTAGGGGATAGTTAACTAGCGTCTCTGAGTTTCTGTTTTCTCATTGGCAAAATGGGGACAGTAATACCTATCTTGCAGCACTGCTGAAGAGAGAAAATTATGTAAAGCAAGAGTCACAGTACCTGGGATGTCATAGGAGTTCATTAAACAGTGGCTGGCATTAGCTATTATAATAGAGTGTGGTTCCTTTAATAGTATGAGACCTAGGTAATATTATCCCCTATTTTACAGGAGAGGATGTTGAGGCTCAGAAATGTTAAGTGCCTTGTCCCAGATCACATGGCAAGGAGAAGCTGAAGCTGAGCTATCTCAGCCTGGGTCTGTCTCCAAAGCCTGTTGTTTTCCTCTAATGCATCACGTCCTACGTGAGTGCTGTTACAGTGCCAGAGGTGCCTGCTGCTGCCTCAGTCTGGCTGCCTCCCGCCTTCCCCCTGAAGAGTACTATTAGAGATACAAAACTAATGGAGAACGAGGACCTTTCACAACCTGCTTTTGCCTTTCCAGATCCGGAAGAAGAGCTATTAATTATAGAGCATTTTGAGGATGATTTTTTTCCTTAGGAATACAGATTCCCCAGGAAATTGCCAGCCTTCTGTCTTTTTTTCAACTCAAAGTATGACTAATGTTTTTGAGACTTGTTGTTGGCTAGGAAGTCAAGTCACATCAATTATTCATTTAAATTGGAGGGTTTGGGGTTATTTGGAGGACAAATAACTAGAAATATTTGTGTAAGTTTCTGATGAAATAGAAAACTCAACTGATTGTTTGTATTTCATGTTGTTTCTTAGGCAACAGGAGGAGGATATGAAAGTGATGATGCATATCATAACGCCGAACTTTTCTTCTTAGACATTCATAATATTCATGTTATGCGGGAATCTTTAAAAAAGTGAAGGACATTGTTTATCCTAATGTAGAAGAATCTCATTGGTTGTCCAGTTTGGAGTCTACTCATTGGTTAGAACATATCAAGGCAAGTATATTTTGTGAAAATATTTGTGTATATAAAAAAGAATGTAATTGTTTAGTGGAATGGACATATTTTTAAATTCCTTAAAAAAATGGACATTGAGAGATAAACTTTGTAGTAGAGGACCACATTTAACAGTTTTATGTTGCTTTATAATTTGCTTACCTAAATTAAAGATTTCACATCATCACTCCAGAATATATTTAGAGTTTGCAAAGACATCTCTTTCCATCTTTCAGTATTAAGTCGTTCAGTCTTTCATGCAGGTTTATTTAGGAATAGCCAATTTATTATCTAACCATTACTGGATATGACCTCTTTGGACCTAGATAAGAGGTGGTTAGTTTTGTTTTTTTTGTTGTTTTTTGTTTTTTTTTGTTTTTTGAAACTAATCTCAAATGACTTATTTTAAAGAATTGGTTTTGTGTTTTATTATGTTCAATCCTTTATCCTGATAAAGGCAGCAATAATCCTCCACTTTTTAAAAAGTACTTGAAGTGATCTGAGGGAACTAACACTTTTAGAAACCATTTAGTTCTGTACACAAACAAAAAGTCAGCTTTAATGTATAGGTGAATTATTAAGATATATTCTCTAGTCAAATTTTGTTTTCCAACTTACCCTTCATCTGCAAGTGGTGGCATGCTCTTCTCAGCTAGCGAGGCTCACCCTCTTGGTGTCATCCTACATTTCTTTAGCTCCTGCACTGAGCTAATCATCAAGTACCACAGGCCCTTCCTTGGAAACATGTCTGTCACTCTCATAGTCCCCTCACCCCCACACTGGCAGCATTCAAACTAGGCCATTACTACCCCTATCTTTGCACTCTTAAAATGGTTCTGTTTTCTCTTCCTTCCCTCTCGTATCTATTCTATAAGCAGCTGACAGAACATTTTCCTAAAATATCCTGCTATTCCAAAACCTCTGGGGGCTCCCAACAGCCTAACCTGACAGCCACACCCCTGTTCATCTGGCTTCTGCAGGTTTGTAGATTAACCTGCAACTACAGAAATCCTTACTCTTCCTAATTCCATCTCACTTATGCCTGTTTCTGGGCCTTTGTCTAGGTTGTCCTCTTTCTCTAGAATGGATTCCCCCATCCTTCCACTTTCTTCAAGGACCAGATCAAATCCCACCGAATCTCAAAGGGAATGTTCCTTCCACTGACTTTGCTATACATTATGTCTCTTTTTACACATACCTATCATCTCTTCAATCATATGTGAACCTCCTTAAAGTCTTATACCATTTTCCCATTCACAAGGTCTAACATAAAAACCAAAATAAAACTTTTTATTTTACAATAGTTTTCAATTTACAGAAAAATTGTAAAAGTGCTATAGAAAGTTCCCATATACCCAACCGAGTTTTTCTTCTTATTGACGTCTTACACTGCTCATAACTATGGCATGTCACATTGTACAGTATACTAGTCACAACTAATGAGCCAATATTTATACATTATTAACTTATTATTAATAAAGTTCATACTTTATTTGGATTTCCTTAGCTTTTACCTAATGTCCTTTTTCTGTTTAAGGATCCCATCCAGGTATCACATTATATTTAGTTGTCACAATTAGGTTGTTTTTTTTTTTTTTTTTTTTAACAATTCATTGGTGAGGATGACAAATTCATAAAAAAATGAAAGGCAAAATAAAAATAAGATTTGATTGGGACCTTGGTCAAGAGAAACACCATGCATTTGGGGTAGTGATGGGCCGTCCACCTGGTGGTGTCTAGCAGGCAGGCTTTCTGCAAAGTAGAACCCAAAATAGAGACTTAACACAGAGATGTTGGTTTGGCAGTCAGCTATTGGGCAACAAACGCAAGCAAAGCCCTTTAATGTAGATTCTGAGAGAGGATGTGTGGGGAAAAGATCAGAGGACTTTGAGTGGAGCTTTGGGCCTGTTTGTATTCAGGGCAGGAGGTGAGAAGTGGAGCTCAGTGAAGGAGGCAN
|
pathogenic
| 339,965 |
Does the variant impacting MTM1 (myotubularin 1) on chromosome X, position 150657853, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
CATTATGGTGATAATTGCACAACTGTATAAATTTGCTAAATCTTATTGCACTCACACTCAGGATGGGTATATTCCATTGTTTATAAAGTATGTTTCTGTAAATGCATGAATCATCAAAAAATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATTGAATTTTTGTCCTGCAAAAATTTATATGTTGAAGTCCTGACCCCCTGTACCTCAGAGCGTGACCCTATTTGAAAAGAAGGTCTTTGCAGACATGTTTAGTTGAAATGAAACTGTACTGGAGTAGTGTGGGCTCTTACTTTGTTATGACTAGTGCCCTTATAAAAAGAAATTTGGACACAGACACACACACACAGTGAGACTGCCATGTGAAGATTGGCTGCCCCAAGCCAAGGAACGACCAGAGGCTAGAAGAGTGACCTGGAAAAGATCTTTAGTGGTGAGCATGGCACTGCCAGCACTGTGATCTCAAACTTCTAGCCTCCAGAACTGTGAGACAATATATTTTTGTTGTTTAAGCCTCATAGTTTCTGGTACTTTATGACAGCCCTAGCACACTATCGCAATCACATCCATGAAAATAAGTTTGAGATGCAGTTTGGCTTTTGGTTTGTTTCAGTTTGTTTTTTAACACCTGGGCACATTCAAATGCAGTGTCTGCAGCAAAAGTAACTATCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTACCCATCTGACAAAGGGCTATATCCAGAATCTACAAAGAACTCAAACAAATTTACAAGAAAAAAACAACCCCATCAACATGTGGGCGAAGGATATGAAGAGACACTTCTCAAAAGAAGACATTTACGCAGCCAGCAGACACATGAAAAACTGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAAGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGACAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGAAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGGAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAACAGGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTGTCGCAAGGACAAAAAACCCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACATTTGGACACAGGAAGGGGAACATCACACACCAGGGCCTGTTGTGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGTACATGCACCCTAGAACTTAAAGTATAATTTAAAAAAAAAAGAAGAAAAGAAAACAAATGCAGCGTCTGTAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATTGAAGGGTTCGAAATACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATTTGCATCTGTGAGTAAACAAAGCTAATTTCTAAAAATAGATCACTACCATTCAGGATTTTAAAACTAGTTGTTAAATTACATATTCAGTATTACAATGAAAATCTGAGGAGTGTAATAAAAACTTTACGCGTTTGAAAATGCATGATGCCTTGGGTAGTGAAAGTCTTTTTAAGAGATATGTTTATCCATCTGCACTGTTTGCAGTTTCACTTGAAAGCAATACAAAGAATCTTCATAGAAATGTTTACATTGAAATTTCATAAGAGAAGGAAGACAGACAATTCTTTCTCAAATAATATAGCTATTAGAGTCAAATATATTTTATAGACTTTTAGTTGAGGCTTTTTATTTCTGATATGCATTTTAAAAATCATCGAGAGATGAATAAGTTCAAAAGAGCTATTGTATAACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAGTGATTCTCATGAAGGGGATCTGTAGGCTACCCTTTCAGAAACACTGCTATGTATCCTTTTAGCCTTCACCCAGGTTTCATAGTGTGAATAACATTTTCAAGTAGAAAGAATCATTGTGTTTTTTTGCTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTTTCGCCCTTATTGCCCAAGCTGGAGCGCAATGGCGTGATCTCGGCTCACTACAACCTCCACCTCTTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGCGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCACACCCAGCCATAGAAAGAATCATTGTTTAGTAAATGAATACATTGTGAGATTTTTTGGTTTTGTCTTGTTTTTAAGAGAGAAAGAACATTTAATTCTAATCATCATACCTTTTGGACATGATTTTAAGTCTTGAAACTTTAGGATTGTTTTCTTCGCGACTGAAAGAACTAGGTTGAGTGTATTGCTAACATACTATGTAGGATAATCATGCCCATTCTATCCATAGCTGTTCAGGACTTGTACAAAATTCTGATTATATGAAATAATTGTAATAATCACCTAGGATGATGATTCTTTGGCAATTTTTATTGGTATTTTACAGACATTTATATACTTAATTTCCATTATTTTGAAACCTTACATTGCCTATATTGCCATGGAAGTATATATTATTTCCTCTCTGAGAAACTTGGCATTTAGAAGGCACATTGCTGAATTGTATTGTCACATTTTGTGTTATATGCTTTCTCAGTTTTGTACCCATTAATTAAAACAAATTATCTTCATCAATTTATTCAGCGAATAGGTCATGGTGATAAAAACCACACCGATGCTGACCGTTCTCCTATTTTTCTCCAGTTTATTGATTGTGTGTGGCAAATGTCAAAACAGGTAAGGAATATGAGGGATGAAAATACATTCAACTCATTGTTTAAATTAAACATTTTAATATAATGATTGGGATTTGACCCCAAAATAATACAGGGTAGAGCTAGAGATGAAGCAAGACTGGGCATGTGTGAATACTTGCAGAAG
|
CATTATGGTGATAATTGCACAACTGTATAAATTTGCTAAATCTTATTGCACTCACACTCAGGATGGGTATATTCCATTGTTTATAAAGTATGTTTCTGTAAATGCATGAATCATCAAAAAATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGTGATTTTTTTTTTAATCTGATCACAGTTATGGATTGAATTTTTGTCCTGCAAAAATTTATATGTTGAAGTCCTGACCCCCTGTACCTCAGAGCGTGACCCTATTTGAAAAGAAGGTCTTTGCAGACATGTTTAGTTGAAATGAAACTGTACTGGAGTAGTGTGGGCTCTTACTTTGTTATGACTAGTGCCCTTATAAAAAGAAATTTGGACACAGACACACACACACAGTGAGACTGCCATGTGAAGATTGGCTGCCCCAAGCCAAGGAACGACCAGAGGCTAGAAGAGTGACCTGGAAAAGATCTTTAGTGGTGAGCATGGCACTGCCAGCACTGTGATCTCAAACTTCTAGCCTCCAGAACTGTGAGACAATATATTTTTGTTGTTTAAGCCTCATAGTTTCTGGTACTTTATGACAGCCCTAGCACACTATCGCAATCACATCCATGAAAATAAGTTTGAGATGCAGTTTGGCTTTTGGTTTGTTTCAGTTTGTTTTTTAACACCTGGGCACATTCAAATGCAGTGTCTGCAGCAAAAGTAACTATCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTACCCATCTGACAAAGGGCTATATCCAGAATCTACAAAGAACTCAAACAAATTTACAAGAAAAAAACAACCCCATCAACATGTGGGCGAAGGATATGAAGAGACACTTCTCAAAAGAAGACATTTACGCAGCCAGCAGACACATGAAAAACTGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAAGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGACAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGAAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGGAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAACAGGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTGTCGCAAGGACAAAAAACCCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACATTTGGACACAGGAAGGGGAACATCACACACCAGGGCCTGTTGTGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGTACATGCACCCTAGAACTTAAAGTATAATTTAAAAAAAAAAGAAGAAAAGAAAACAAATGCAGCGTCTGTAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATTGAAGGGTTCGAAATACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATTTGCATCTGTGAGTAAACAAAGCTAATTTCTAAAAATAGATCACTACCATTCAGGATTTTAAAACTAGTTGTTAAATTACATATTCAGTATTACAATGAAAATCTGAGGAGTGTAATAAAAACTTTACGCGTTTGAAAATGCATGATGCCTTGGGTAGTGAAAGTCTTTTTAAGAGATATGTTTATCCATCTGCACTGTTTGCAGTTTCACTTGAAAGCAATACAAAGAATCTTCATAGAAATGTTTACATTGAAATTTCATAAGAGAAGGAAGACAGACAATTCTTTCTCAAATAATATAGCTATTAGAGTCAAATATATTTTATAGACTTTTAGTTGAGGCTTTTTATTTCTGATATGCATTTTAAAAATCATCGAGAGATGAATAAGTTCAAAAGAGCTATTGTATAACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAGTGATTCTCATGAAGGGGATCTGTAGGCTACCCTTTCAGAAACACTGCTATGTATCCTTTTAGCCTTCACCCAGGTTTCATAGTGTGAATAACATTTTCAAGTAGAAAGAATCATTGTGTTTTTTTGCTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTTTCGCCCTTATTGCCCAAGCTGGAGCGCAATGGCGTGATCTCGGCTCACTACAACCTCCACCTCTTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGCGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCACACCCAGCCATAGAAAGAATCATTGTTTAGTAAATGAATACATTGTGAGATTTTTTGGTTTTGTCTTGTTTTTAAGAGAGAAAGAACATTTAATTCTAATCATCATACCTTTTGGACATGATTTTAAGTCTTGAAACTTTAGGATTGTTTTCTTCGCGACTGAAAGAACTAGGTTGAGTGTATTGCTAACATACTATGTAGGATAATCATGCCCATTCTATCCATAGCTGTTCAGGACTTGTACAAAATTCTGATTATATGAAATAATTGTAATAATCACCTAGGATGATGATTCTTTGGCAATTTTTATTGGTATTTTACAGACATTTATATACTTAATTTCCATTATTTTGAAACCTTACATTGCCTATATTGCCATGGAAGTATATATTATTTCCTCTCTGAGAAACTTGGCATTTAGAAGGCACATTGCTGAATTGTATTGTCACATTTTGTGTTATATGCTTTCTCAGTTTTGTACCCATTAATTAAAACAAATTATCTTCATCAATTTATTCAGCGAATAGGTCATGGTGATAAAAACCACACCGATGCTGACCGTTCTCCTATTTTTCTCCAGTTTATTGATTGTGTGTGGCAAATGTCAAAACAGGTAAGGAATATGAGGGATGAAAATACATTCAACTCATTGTTTAAATTAAACATTTTAATATAATGATTGGGATTTGACCCCAAAATAATACAGGGTAGAGCTAGAGATGAAGCAAGACTGGGCATGTGTGAATACTTGCAGAAGNN
|
pathogenic
| 339,969 |
Variant chromosome X, position 150659706, gene MTM1 (myotubularin 1): benign or pathogenic? Disease(s)?
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
TAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATTGAAGGGTTCGAAATACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATTTGCATCTGTGAGTAAACAAAGCTAATTTCTAAAAATAGATCACTACCATTCAGGATTTTAAAACTAGTTGTTAAATTACATATTCAGTATTACAATGAAAATCTGAGGAGTGTAATAAAAACTTTACGCGTTTGAAAATGCATGATGCCTTGGGTAGTGAAAGTCTTTTTAAGAGATATGTTTATCCATCTGCACTGTTTGCAGTTTCACTTGAAAGCAATACAAAGAATCTTCATAGAAATGTTTACATTGAAATTTCATAAGAGAAGGAAGACAGACAATTCTTTCTCAAATAATATAGCTATTAGAGTCAAATATATTTTATAGACTTTTAGTTGAGGCTTTTTATTTCTGATATGCATTTTAAAAATCATCGAGAGATGAATAAGTTCAAAAGAGCTATTGTATAACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAGTGATTCTCATGAAGGGGATCTGTAGGCTACCCTTTCAGAAACACTGCTATGTATCCTTTTAGCCTTCACCCAGGTTTCATAGTGTGAATAACATTTTCAAGTAGAAAGAATCATTGTGTTTTTTTGCTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTTTCGCCCTTATTGCCCAAGCTGGAGCGCAATGGCGTGATCTCGGCTCACTACAACCTCCACCTCTTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGCGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCACACCCAGCCATAGAAAGAATCATTGTTTAGTAAATGAATACATTGTGAGATTTTTTGGTTTTGTCTTGTTTTTAAGAGAGAAAGAACATTTAATTCTAATCATCATACCTTTTGGACATGATTTTAAGTCTTGAAACTTTAGGATTGTTTTCTTCGCGACTGAAAGAACTAGGTTGAGTGTATTGCTAACATACTATGTAGGATAATCATGCCCATTCTATCCATAGCTGTTCAGGACTTGTACAAAATTCTGATTATATGAAATAATTGTAATAATCACCTAGGATGATGATTCTTTGGCAATTTTTATTGGTATTTTACAGACATTTATATACTTAATTTCCATTATTTTGAAACCTTACATTGCCTATATTGCCATGGAAGTATATATTATTTCCTCTCTGAGAAACTTGGCATTTAGAAGGCACATTGCTGAATTGTATTGTCACATTTTGTGTTATATGCTTTCTCAGTTTTGTACCCATTAATTAAAACAAATTATCTTCATCAATTTATTCAGCGAATAGGTCATGGTGATAAAAACCACACCGATGCTGACCGTTCTCCTATTTTTCTCCAGTTTATTGATTGTGTGTGGCAAATGTCAAAACAGGTAAGGAATATGAGGGATGAAAATACATTCAACTCATTGTTTAAATTAAACATTTTAATATAATGATTGGGATTTGACCCCAAAATAATACAGGGTAGAGCTAGAGATGAAGCAAGACTGGGCATGTGTGAATACTTGCAGAAGCCAGGTACATGAGCGTTCACCTTTTTATTCCTGCTACTATTGATATATCTGGGATTTTCCCTAATAAAGTTTTAAAAATTAAGTATTTAACTCTGATGTCTCTACTAGTGGAATTGACAATACCAAGTCGTCGTTTATATACATTTTACACTGACCCTTATATATAGCTGTGTCTGCTATCTCATAATAGCTTAAATAACTAAACTACACTGTACCTGCAGGAGAACCCAGAAAATCAGCCTGTTTATCTCATTTTCCTCTTTATTGCTTTATTTAACACTTAAAGTGCTCAGACCTATATAAACTGCTAAAAAAAGAACAACTGTAGTGTGTGTGCAGATTACAGCCTCTGCTGTCCTTCCTAGAGCCCTACAATGTGGCAGCATTTGTTTACTTCTACAGTGTATCTTTCTAATTTTATAAAGTTTCAGTCCCAGTTTTTCATGCTTTGTTTGCTTGTTTTTGTTTAGTTCCCTACAGCTTTTGAATTCAATGAACAATTTTTGATTATAATTTTGGATCATCTGTATAGTTGCCGATTTGGTACTTTCTTATTCAACTGTGAATCTGCTCGAGAAAGACAGGTGAGTTAAAATGCTATTTTTTTTGATACATTAGGCTTGCCAAAATGTATGTAGTCTACCATGAAATATAAAAAATATGATAGCTTGTAAGACACTGTCTTTGACCTCAAAGAGTAGGAATTACATTAAAGGTATGCATTTTGTGTTATATAAAGGAATACCTGAGGCTGGGTAACTTACAAAGAAAAGAGGTTTAATTAGCTCACAGTTCTGCAGGCTGTACAAGGAGCATAGTGCCGGCATCTGCTTAGTTTCTGGTGAGAGCCTCAGGCTGCTTCCACTCATGGCAGAAGGTGAAGGGGAGCCAGTGTGTAGAGATCATATGGTGGAAGAGGAAGCAAGAGAGAGGGGAGAGGGTGCCAGGCTCTTTGTAACAACTCAGCTGTCTTGGTAACTAATATAGAGTGACAACAAACACCTAAGAGAGAGCATTAATCTGTTCATGAGGGACCTGTCCTCATGACCCAAACACCTCCCACTAGGTCCCACCTCCAAAATTGGGGATCAGATTTCTTTTTCTTTATTTTTTTGTTTGTTTGTTGTTGTTGTTGTTGTTTGAGACAGGGTTTCACTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTTCCTGGCTTAAGCAAGATTCTCCCACCTCAGCCTCCTGAGTAGGTGGGACCACAGGTGCACACCACCACAGCTAGCTAATTTTTGTAGTTTTAGTAGTGATGGGGTTTTGCCATGTTACCTGGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACCCGCCTCACCCTCCCAAAGTGCTGGGATTGCAGGTGTGAACCACTGCGCCCAGCCTGGCGATCAGATTTCAACATGAGGTTTGGAGAGAACAAATATTCAAACTATGACAGAGGTTCCCCCAAAAGTAAAAATATAGCTACCATACGATCCAGCACTCCCACTATTGGGTACATATCTAAAGGAAATGAAATCATCATGTCAAAGAGGTTATCTGCAATCTCATGTATATTGCAGCAGTATTCACAGTAGCCAAGATATGGACTCAACCTGTGTCCATCAACAGATGAATAAAGAAAACGTAGTACCTATATACAGTAGACTACTACTCAGCCATAAAAAATGAAATCCTACCATTTGCAACAACATAAGTAAATCTGGAGGACATTATGCTAAGCGAAATAAACCAGGCACAGAAAGACAAATACCACATGATTTCCCTTATGTGTGGAATCTAAGAAAACTTGAACCTATAGTAACAGAGAGT
|
TAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATTGAAGGGTTCGAAATACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATTTGCATCTGTGAGTAAACAAAGCTAATTTCTAAAAATAGATCACTACCATTCAGGATTTTAAAACTAGTTGTTAAATTACATATTCAGTATTACAATGAAAATCTGAGGAGTGTAATAAAAACTTTACGCGTTTGAAAATGCATGATGCCTTGGGTAGTGAAAGTCTTTTTAAGAGATATGTTTATCCATCTGCACTGTTTGCAGTTTCACTTGAAAGCAATACAAAGAATCTTCATAGAAATGTTTACATTGAAATTTCATAAGAGAAGGAAGACAGACAATTCTTTCTCAAATAATATAGCTATTAGAGTCAAATATATTTTATAGACTTTTAGTTGAGGCTTTTTATTTCTGATATGCATTTTAAAAATCATCGAGAGATGAATAAGTTCAAAAGAGCTATTGTATAACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAGTGATTCTCATGAAGGGGATCTGTAGGCTACCCTTTCAGAAACACTGCTATGTATCCTTTTAGCCTTCACCCAGGTTTCATAGTGTGAATAACATTTTCAAGTAGAAAGAATCATTGTGTTTTTTTGCTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTTTCGCCCTTATTGCCCAAGCTGGAGCGCAATGGCGTGATCTCGGCTCACTACAACCTCCACCTCTTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGCGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCACACCCAGCCATAGAAAGAATCATTGTTTAGTAAATGAATACATTGTGAGATTTTTTGGTTTTGTCTTGTTTTTAAGAGAGAAAGAACATTTAATTCTAATCATCATACCTTTTGGACATGATTTTAAGTCTTGAAACTTTAGGATTGTTTTCTTCGCGACTGAAAGAACTAGGTTGAGTGTATTGCTAACATACTATGTAGGATAATCATGCCCATTCTATCCATAGCTGTTCAGGACTTGTACAAAATTCTGATTATATGAAATAATTGTAATAATCACCTAGGATGATGATTCTTTGGCAATTTTTATTGGTATTTTACAGACATTTATATACTTAATTTCCATTATTTTGAAACCTTACATTGCCTATATTGCCATGGAAGTATATATTATTTCCTCTCTGAGAAACTTGGCATTTAGAAGGCACATTGCTGAATTGTATTGTCACATTTTGTGTTATATGCTTTCTCAGTTTTGTACCCATTAATTAAAACAAATTATCTTCATCAATTTATTCAGCGAATAGGTCATGGTGATAAAAACCACACCGATGCTGACCGTTCTATTTTTCTCCAGTTTATTGATTGTGTGTGGCAAATGTCAAAACAGGTAAGGAATATGAGGGATGAAAATACATTCAACTCATTGTTTAAATTAAACATTTTAATATAATGATTGGGATTTGACCCCAAAATAATACAGGGTAGAGCTAGAGATGAAGCAAGACTGGGCATGTGTGAATACTTGCAGAAGCCAGGTACATGAGCGTTCACCTTTTTATTCCTGCTACTATTGATATATCTGGGATTTTCCCTAATAAAGTTTTAAAAATTAAGTATTTAACTCTGATGTCTCTACTAGTGGAATTGACAATACCAAGTCGTCGTTTATATACATTTTACACTGACCCTTATATATAGCTGTGTCTGCTATCTCATAATAGCTTAAATAACTAAACTACACTGTACCTGCAGGAGAACCCAGAAAATCAGCCTGTTTATCTCATTTTCCTCTTTATTGCTTTATTTAACACTTAAAGTGCTCAGACCTATATAAACTGCTAAAAAAAGAACAACTGTAGTGTGTGTGCAGATTACAGCCTCTGCTGTCCTTCCTAGAGCCCTACAATGTGGCAGCATTTGTTTACTTCTACAGTGTATCTTTCTAATTTTATAAAGTTTCAGTCCCAGTTTTTCATGCTTTGTTTGCTTGTTTTTGTTTAGTTCCCTACAGCTTTTGAATTCAATGAACAATTTTTGATTATAATTTTGGATCATCTGTATAGTTGCCGATTTGGTACTTTCTTATTCAACTGTGAATCTGCTCGAGAAAGACAGGTGAGTTAAAATGCTATTTTTTTTGATACATTAGGCTTGCCAAAATGTATGTAGTCTACCATGAAATATAAAAAATATGATAGCTTGTAAGACACTGTCTTTGACCTCAAAGAGTAGGAATTACATTAAAGGTATGCATTTTGTGTTATATAAAGGAATACCTGAGGCTGGGTAACTTACAAAGAAAAGAGGTTTAATTAGCTCACAGTTCTGCAGGCTGTACAAGGAGCATAGTGCCGGCATCTGCTTAGTTTCTGGTGAGAGCCTCAGGCTGCTTCCACTCATGGCAGAAGGTGAAGGGGAGCCAGTGTGTAGAGATCATATGGTGGAAGAGGAAGCAAGAGAGAGGGGAGAGGGTGCCAGGCTCTTTGTAACAACTCAGCTGTCTTGGTAACTAATATAGAGTGACAACAAACACCTAAGAGAGAGCATTAATCTGTTCATGAGGGACCTGTCCTCATGACCCAAACACCTCCCACTAGGTCCCACCTCCAAAATTGGGGATCAGATTTCTTTTTCTTTATTTTTTTGTTTGTTTGTTGTTGTTGTTGTTGTTTGAGACAGGGTTTCACTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTTCCTGGCTTAAGCAAGATTCTCCCACCTCAGCCTCCTGAGTAGGTGGGACCACAGGTGCACACCACCACAGCTAGCTAATTTTTGTAGTTTTAGTAGTGATGGGGTTTTGCCATGTTACCTGGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACCCGCCTCACCCTCCCAAAGTGCTGGGATTGCAGGTGTGAACCACTGCGCCCAGCCTGGCGATCAGATTTCAACATGAGGTTTGGAGAGAACAAATATTCAAACTATGACAGAGGTTCCCCCAAAAGTAAAAATATAGCTACCATACGATCCAGCACTCCCACTATTGGGTACATATCTAAAGGAAATGAAATCATCATGTCAAAGAGGTTATCTGCAATCTCATGTATATTGCAGCAGTATTCACAGTAGCCAAGATATGGACTCAACCTGTGTCCATCAACAGATGAATAAAGAAAACGTAGTACCTATATACAGTAGACTACTACTCAGCCATAAAAAATGAAATCCTACCATTTGCAACAACATAAGTAAATCTGGAGGACATTATGCTAAGCGAAATAAACCAGGCACAGAAAGACAAATACCACATGATTTCCCTTATGTGTGGAATCTAAGAAAACTTGAACCTATAGTAACAGAGAGTNNN
|
pathogenic
| 339,981 |
Chromosome X, position 150659749, gene MTM1 (myotubularin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
TGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATTGAAGGGTTCGAAATACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATTTGCATCTGTGAGTAAACAAAGCTAATTTCTAAAAATAGATCACTACCATTCAGGATTTTAAAACTAGTTGTTAAATTACATATTCAGTATTACAATGAAAATCTGAGGAGTGTAATAAAAACTTTACGCGTTTGAAAATGCATGATGCCTTGGGTAGTGAAAGTCTTTTTAAGAGATATGTTTATCCATCTGCACTGTTTGCAGTTTCACTTGAAAGCAATACAAAGAATCTTCATAGAAATGTTTACATTGAAATTTCATAAGAGAAGGAAGACAGACAATTCTTTCTCAAATAATATAGCTATTAGAGTCAAATATATTTTATAGACTTTTAGTTGAGGCTTTTTATTTCTGATATGCATTTTAAAAATCATCGAGAGATGAATAAGTTCAAAAGAGCTATTGTATAACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAGTGATTCTCATGAAGGGGATCTGTAGGCTACCCTTTCAGAAACACTGCTATGTATCCTTTTAGCCTTCACCCAGGTTTCATAGTGTGAATAACATTTTCAAGTAGAAAGAATCATTGTGTTTTTTTGCTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTTTCGCCCTTATTGCCCAAGCTGGAGCGCAATGGCGTGATCTCGGCTCACTACAACCTCCACCTCTTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGCGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCACACCCAGCCATAGAAAGAATCATTGTTTAGTAAATGAATACATTGTGAGATTTTTTGGTTTTGTCTTGTTTTTAAGAGAGAAAGAACATTTAATTCTAATCATCATACCTTTTGGACATGATTTTAAGTCTTGAAACTTTAGGATTGTTTTCTTCGCGACTGAAAGAACTAGGTTGAGTGTATTGCTAACATACTATGTAGGATAATCATGCCCATTCTATCCATAGCTGTTCAGGACTTGTACAAAATTCTGATTATATGAAATAATTGTAATAATCACCTAGGATGATGATTCTTTGGCAATTTTTATTGGTATTTTACAGACATTTATATACTTAATTTCCATTATTTTGAAACCTTACATTGCCTATATTGCCATGGAAGTATATATTATTTCCTCTCTGAGAAACTTGGCATTTAGAAGGCACATTGCTGAATTGTATTGTCACATTTTGTGTTATATGCTTTCTCAGTTTTGTACCCATTAATTAAAACAAATTATCTTCATCAATTTATTCAGCGAATAGGTCATGGTGATAAAAACCACACCGATGCTGACCGTTCTCCTATTTTTCTCCAGTTTATTGATTGTGTGTGGCAAATGTCAAAACAGGTAAGGAATATGAGGGATGAAAATACATTCAACTCATTGTTTAAATTAAACATTTTAATATAATGATTGGGATTTGACCCCAAAATAATACAGGGTAGAGCTAGAGATGAAGCAAGACTGGGCATGTGTGAATACTTGCAGAAGCCAGGTACATGAGCGTTCACCTTTTTATTCCTGCTACTATTGATATATCTGGGATTTTCCCTAATAAAGTTTTAAAAATTAAGTATTTAACTCTGATGTCTCTACTAGTGGAATTGACAATACCAAGTCGTCGTTTATATACATTTTACACTGACCCTTATATATAGCTGTGTCTGCTATCTCATAATAGCTTAAATAACTAAACTACACTGTACCTGCAGGAGAACCCAGAAAATCAGCCTGTTTATCTCATTTTCCTCTTTATTGCTTTATTTAACACTTAAAGTGCTCAGACCTATATAAACTGCTAAAAAAAGAACAACTGTAGTGTGTGTGCAGATTACAGCCTCTGCTGTCCTTCCTAGAGCCCTACAATGTGGCAGCATTTGTTTACTTCTACAGTGTATCTTTCTAATTTTATAAAGTTTCAGTCCCAGTTTTTCATGCTTTGTTTGCTTGTTTTTGTTTAGTTCCCTACAGCTTTTGAATTCAATGAACAATTTTTGATTATAATTTTGGATCATCTGTATAGTTGCCGATTTGGTACTTTCTTATTCAACTGTGAATCTGCTCGAGAAAGACAGGTGAGTTAAAATGCTATTTTTTTTGATACATTAGGCTTGCCAAAATGTATGTAGTCTACCATGAAATATAAAAAATATGATAGCTTGTAAGACACTGTCTTTGACCTCAAAGAGTAGGAATTACATTAAAGGTATGCATTTTGTGTTATATAAAGGAATACCTGAGGCTGGGTAACTTACAAAGAAAAGAGGTTTAATTAGCTCACAGTTCTGCAGGCTGTACAAGGAGCATAGTGCCGGCATCTGCTTAGTTTCTGGTGAGAGCCTCAGGCTGCTTCCACTCATGGCAGAAGGTGAAGGGGAGCCAGTGTGTAGAGATCATATGGTGGAAGAGGAAGCAAGAGAGAGGGGAGAGGGTGCCAGGCTCTTTGTAACAACTCAGCTGTCTTGGTAACTAATATAGAGTGACAACAAACACCTAAGAGAGAGCATTAATCTGTTCATGAGGGACCTGTCCTCATGACCCAAACACCTCCCACTAGGTCCCACCTCCAAAATTGGGGATCAGATTTCTTTTTCTTTATTTTTTTGTTTGTTTGTTGTTGTTGTTGTTGTTTGAGACAGGGTTTCACTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTTCCTGGCTTAAGCAAGATTCTCCCACCTCAGCCTCCTGAGTAGGTGGGACCACAGGTGCACACCACCACAGCTAGCTAATTTTTGTAGTTTTAGTAGTGATGGGGTTTTGCCATGTTACCTGGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACCCGCCTCACCCTCCCAAAGTGCTGGGATTGCAGGTGTGAACCACTGCGCCCAGCCTGGCGATCAGATTTCAACATGAGGTTTGGAGAGAACAAATATTCAAACTATGACAGAGGTTCCCCCAAAAGTAAAAATATAGCTACCATACGATCCAGCACTCCCACTATTGGGTACATATCTAAAGGAAATGAAATCATCATGTCAAAGAGGTTATCTGCAATCTCATGTATATTGCAGCAGTATTCACAGTAGCCAAGATATGGACTCAACCTGTGTCCATCAACAGATGAATAAAGAAAACGTAGTACCTATATACAGTAGACTACTACTCAGCCATAAAAAATGAAATCCTACCATTTGCAACAACATAAGTAAATCTGGAGGACATTATGCTAAGCGAAATAAACCAGGCACAGAAAGACAAATACCACATGATTTCCCTTATGTGTGGAATCTAAGAAAACTTGAACCTATAGTAACAGAGAGTAGAAGGGTAGTTACCAGGGGCTGGGGAAGGGGTAAGGGAAAGA
|
TGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATTGAAGGGTTCGAAATACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATTTGCATCTGTGAGTAAACAAAGCTAATTTCTAAAAATAGATCACTACCATTCAGGATTTTAAAACTAGTTGTTAAATTACATATTCAGTATTACAATGAAAATCTGAGGAGTGTAATAAAAACTTTACGCGTTTGAAAATGCATGATGCCTTGGGTAGTGAAAGTCTTTTTAAGAGATATGTTTATCCATCTGCACTGTTTGCAGTTTCACTTGAAAGCAATACAAAGAATCTTCATAGAAATGTTTACATTGAAATTTCATAAGAGAAGGAAGACAGACAATTCTTTCTCAAATAATATAGCTATTAGAGTCAAATATATTTTATAGACTTTTAGTTGAGGCTTTTTATTTCTGATATGCATTTTAAAAATCATCGAGAGATGAATAAGTTCAAAAGAGCTATTGTATAACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAGTGATTCTCATGAAGGGGATCTGTAGGCTACCCTTTCAGAAACACTGCTATGTATCCTTTTAGCCTTCACCCAGGTTTCATAGTGTGAATAACATTTTCAAGTAGAAAGAATCATTGTGTTTTTTTGCTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTTTCGCCCTTATTGCCCAAGCTGGAGCGCAATGGCGTGATCTCGGCTCACTACAACCTCCACCTCTTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGCGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCACACCCAGCCATAGAAAGAATCATTGTTTAGTAAATGAATACATTGTGAGATTTTTTGGTTTTGTCTTGTTTTTAAGAGAGAAAGAACATTTAATTCTAATCATCATACCTTTTGGACATGATTTTAAGTCTTGAAACTTTAGGATTGTTTTCTTCGCGACTGAAAGAACTAGGTTGAGTGTATTGCTAACATACTATGTAGGATAATCATGCCCATTCTATCCATAGCTGTTCAGGACTTGTACAAAATTCTGATTATATGAAATAATTGTAATAATCACCTAGGATGATGATTCTTTGGCAATTTTTATTGGTATTTTACAGACATTTATATACTTAATTTCCATTATTTTGAAACCTTACATTGCCTATATTGCCATGGAAGTATATATTATTTCCTCTCTGAGAAACTTGGCATTTAGAAGGCACATTGCTGAATTGTATTGTCACATTTTGTGTTATATGCTTTCTCAGTTTTGTACCCATTAATTAAAACAAATTATCTTCATCAATTTATTCAGCGAATAGGTCATGGTGATAAAAACCACACCGATGCTGACCGTTCTCCTATTTTTCTCCAGTTTATTGATTGTGTGTGGCAAATGTCAAGGAATATGAGGGATGAAAATACATTCAACTCATTGTTTAAATTAAACATTTTAATATAATGATTGGGATTTGACCCCAAAATAATACAGGGTAGAGCTAGAGATGAAGCAAGACTGGGCATGTGTGAATACTTGCAGAAGCCAGGTACATGAGCGTTCACCTTTTTATTCCTGCTACTATTGATATATCTGGGATTTTCCCTAATAAAGTTTTAAAAATTAAGTATTTAACTCTGATGTCTCTACTAGTGGAATTGACAATACCAAGTCGTCGTTTATATACATTTTACACTGACCCTTATATATAGCTGTGTCTGCTATCTCATAATAGCTTAAATAACTAAACTACACTGTACCTGCAGGAGAACCCAGAAAATCAGCCTGTTTATCTCATTTTCCTCTTTATTGCTTTATTTAACACTTAAAGTGCTCAGACCTATATAAACTGCTAAAAAAAGAACAACTGTAGTGTGTGTGCAGATTACAGCCTCTGCTGTCCTTCCTAGAGCCCTACAATGTGGCAGCATTTGTTTACTTCTACAGTGTATCTTTCTAATTTTATAAAGTTTCAGTCCCAGTTTTTCATGCTTTGTTTGCTTGTTTTTGTTTAGTTCCCTACAGCTTTTGAATTCAATGAACAATTTTTGATTATAATTTTGGATCATCTGTATAGTTGCCGATTTGGTACTTTCTTATTCAACTGTGAATCTGCTCGAGAAAGACAGGTGAGTTAAAATGCTATTTTTTTTGATACATTAGGCTTGCCAAAATGTATGTAGTCTACCATGAAATATAAAAAATATGATAGCTTGTAAGACACTGTCTTTGACCTCAAAGAGTAGGAATTACATTAAAGGTATGCATTTTGTGTTATATAAAGGAATACCTGAGGCTGGGTAACTTACAAAGAAAAGAGGTTTAATTAGCTCACAGTTCTGCAGGCTGTACAAGGAGCATAGTGCCGGCATCTGCTTAGTTTCTGGTGAGAGCCTCAGGCTGCTTCCACTCATGGCAGAAGGTGAAGGGGAGCCAGTGTGTAGAGATCATATGGTGGAAGAGGAAGCAAGAGAGAGGGGAGAGGGTGCCAGGCTCTTTGTAACAACTCAGCTGTCTTGGTAACTAATATAGAGTGACAACAAACACCTAAGAGAGAGCATTAATCTGTTCATGAGGGACCTGTCCTCATGACCCAAACACCTCCCACTAGGTCCCACCTCCAAAATTGGGGATCAGATTTCTTTTTCTTTATTTTTTTGTTTGTTTGTTGTTGTTGTTGTTGTTTGAGACAGGGTTTCACTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTTCCTGGCTTAAGCAAGATTCTCCCACCTCAGCCTCCTGAGTAGGTGGGACCACAGGTGCACACCACCACAGCTAGCTAATTTTTGTAGTTTTAGTAGTGATGGGGTTTTGCCATGTTACCTGGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACCCGCCTCACCCTCCCAAAGTGCTGGGATTGCAGGTGTGAACCACTGCGCCCAGCCTGGCGATCAGATTTCAACATGAGGTTTGGAGAGAACAAATATTCAAACTATGACAGAGGTTCCCCCAAAAGTAAAAATATAGCTACCATACGATCCAGCACTCCCACTATTGGGTACATATCTAAAGGAAATGAAATCATCATGTCAAAGAGGTTATCTGCAATCTCATGTATATTGCAGCAGTATTCACAGTAGCCAAGATATGGACTCAACCTGTGTCCATCAACAGATGAATAAAGAAAACGTAGTACCTATATACAGTAGACTACTACTCAGCCATAAAAAATGAAATCCTACCATTTGCAACAACATAAGTAAATCTGGAGGACATTATGCTAAGCGAAATAAACCAGGCACAGAAAGACAAATACCACATGATTTCCCTTATGTGTGGAATCTAAGAAAACTTGAACCTATAGTAACAGAGAGTAGAAGGGTAGTTACCAGGGGCTGGGGAAGGGGTAAGGGAAAGANNNNNNNNN
|
pathogenic
| 339,983 |
Considering the variant on chromosome X, location 150660478, involving gene MTM1 (myotubularin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
ACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAGTGATTCTCATGAAGGGGATCTGTAGGCTACCCTTTCAGAAACACTGCTATGTATCCTTTTAGCCTTCACCCAGGTTTCATAGTGTGAATAACATTTTCAAGTAGAAAGAATCATTGTGTTTTTTTGCTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTTTCGCCCTTATTGCCCAAGCTGGAGCGCAATGGCGTGATCTCGGCTCACTACAACCTCCACCTCTTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGCGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCACACCCAGCCATAGAAAGAATCATTGTTTAGTAAATGAATACATTGTGAGATTTTTTGGTTTTGTCTTGTTTTTAAGAGAGAAAGAACATTTAATTCTAATCATCATACCTTTTGGACATGATTTTAAGTCTTGAAACTTTAGGATTGTTTTCTTCGCGACTGAAAGAACTAGGTTGAGTGTATTGCTAACATACTATGTAGGATAATCATGCCCATTCTATCCATAGCTGTTCAGGACTTGTACAAAATTCTGATTATATGAAATAATTGTAATAATCACCTAGGATGATGATTCTTTGGCAATTTTTATTGGTATTTTACAGACATTTATATACTTAATTTCCATTATTTTGAAACCTTACATTGCCTATATTGCCATGGAAGTATATATTATTTCCTCTCTGAGAAACTTGGCATTTAGAAGGCACATTGCTGAATTGTATTGTCACATTTTGTGTTATATGCTTTCTCAGTTTTGTACCCATTAATTAAAACAAATTATCTTCATCAATTTATTCAGCGAATAGGTCATGGTGATAAAAACCACACCGATGCTGACCGTTCTCCTATTTTTCTCCAGTTTATTGATTGTGTGTGGCAAATGTCAAAACAGGTAAGGAATATGAGGGATGAAAATACATTCAACTCATTGTTTAAATTAAACATTTTAATATAATGATTGGGATTTGACCCCAAAATAATACAGGGTAGAGCTAGAGATGAAGCAAGACTGGGCATGTGTGAATACTTGCAGAAGCCAGGTACATGAGCGTTCACCTTTTTATTCCTGCTACTATTGATATATCTGGGATTTTCCCTAATAAAGTTTTAAAAATTAAGTATTTAACTCTGATGTCTCTACTAGTGGAATTGACAATACCAAGTCGTCGTTTATATACATTTTACACTGACCCTTATATATAGCTGTGTCTGCTATCTCATAATAGCTTAAATAACTAAACTACACTGTACCTGCAGGAGAACCCAGAAAATCAGCCTGTTTATCTCATTTTCCTCTTTATTGCTTTATTTAACACTTAAAGTGCTCAGACCTATATAAACTGCTAAAAAAAGAACAACTGTAGTGTGTGTGCAGATTACAGCCTCTGCTGTCCTTCCTAGAGCCCTACAATGTGGCAGCATTTGTTTACTTCTACAGTGTATCTTTCTAATTTTATAAAGTTTCAGTCCCAGTTTTTCATGCTTTGTTTGCTTGTTTTTGTTTAGTTCCCTACAGCTTTTGAATTCAATGAACAATTTTTGATTATAATTTTGGATCATCTGTATAGTTGCCGATTTGGTACTTTCTTATTCAACTGTGAATCTGCTCGAGAAAGACAGGTGAGTTAAAATGCTATTTTTTTTGATACATTAGGCTTGCCAAAATGTATGTAGTCTACCATGAAATATAAAAAATATGATAGCTTGTAAGACACTGTCTTTGACCTCAAAGAGTAGGAATTACATTAAAGGTATGCATTTTGTGTTATATAAAGGAATACCTGAGGCTGGGTAACTTACAAAGAAAAGAGGTTTAATTAGCTCACAGTTCTGCAGGCTGTACAAGGAGCATAGTGCCGGCATCTGCTTAGTTTCTGGTGAGAGCCTCAGGCTGCTTCCACTCATGGCAGAAGGTGAAGGGGAGCCAGTGTGTAGAGATCATATGGTGGAAGAGGAAGCAAGAGAGAGGGGAGAGGGTGCCAGGCTCTTTGTAACAACTCAGCTGTCTTGGTAACTAATATAGAGTGACAACAAACACCTAAGAGAGAGCATTAATCTGTTCATGAGGGACCTGTCCTCATGACCCAAACACCTCCCACTAGGTCCCACCTCCAAAATTGGGGATCAGATTTCTTTTTCTTTATTTTTTTGTTTGTTTGTTGTTGTTGTTGTTGTTTGAGACAGGGTTTCACTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTTCCTGGCTTAAGCAAGATTCTCCCACCTCAGCCTCCTGAGTAGGTGGGACCACAGGTGCACACCACCACAGCTAGCTAATTTTTGTAGTTTTAGTAGTGATGGGGTTTTGCCATGTTACCTGGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACCCGCCTCACCCTCCCAAAGTGCTGGGATTGCAGGTGTGAACCACTGCGCCCAGCCTGGCGATCAGATTTCAACATGAGGTTTGGAGAGAACAAATATTCAAACTATGACAGAGGTTCCCCCAAAAGTAAAAATATAGCTACCATACGATCCAGCACTCCCACTATTGGGTACATATCTAAAGGAAATGAAATCATCATGTCAAAGAGGTTATCTGCAATCTCATGTATATTGCAGCAGTATTCACAGTAGCCAAGATATGGACTCAACCTGTGTCCATCAACAGATGAATAAAGAAAACGTAGTACCTATATACAGTAGACTACTACTCAGCCATAAAAAATGAAATCCTACCATTTGCAACAACATAAGTAAATCTGGAGGACATTATGCTAAGCGAAATAAACCAGGCACAGAAAGACAAATACCACATGATTTCCCTTATGTGTGGAATCTAAGAAAACTTGAACCTATAGTAACAGAGAGTAGAAGGGTAGTTACCAGGGGCTGGGGAAGGGGTAAGGGAAAGAGGAACATAGTGGTCAAAAGATACAAACCTTCAGTTATAAGTACTAAAGACCTAATGTGCAGTATGGTAATTATAGTTAATAATAATGTATATTTGAAATTTGCTAAAATAATAGATCTCAAGTGTTCTCACTGCAAAAAAAATTGGTAACTATATGAGGTGACAGATGTTAATTAGCTTGATTGAGGTGATTATTTCATAATGTATACATATATCAAAATATCACATCGTATACCTTAAATATATACAGTTTTTATTTGTCAGTTGTAAATAATACTGGGGGAAAAACACAATTGTTTCTGGGAAAAGAGGTGAGAGAGAGCACTTTTTTTCATAACCTTGTCAAACTATTTGACTTTTTAAACTATGTGCATATATAAAAATAAAAAGAGTAACATGCAAATAAATACAATGTGGTATATAGATTTTGGCATCAAAAAGGTACAACTGAGGTTTTAGGTGGATTCAGAGAAAGGCAAAATTATGCTGTCGTTATTCATGAAATGAAATACATATGTTTAAGACATTTCTTTTATTTTTCTTTTGAGATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCTGTGGCGCGATCACGGCTCACTGCAACCTCTGCCCCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACTCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGCTTCACCAT
|
ACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAGTGATTCTCATGAAGGGGATCTGTAGGCTACCCTTTCAGAAACACTGCTATGTATCCTTTTAGCCTTCACCCAGGTTTCATAGTGTGAATAACATTTTCAAGTAGAAAGAATCATTGTGTTTTTTTGCTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTTTCGCCCTTATTGCCCAAGCTGGAGCGCAATGGCGTGATCTCGGCTCACTACAACCTCCACCTCTTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGCGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTCTTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCACACCCAGCCATAGAAAGAATCATTGTTTAGTAAATGAATACATTGTGAGATTTTTTGGTTTTGTCTTGTTTTTAAGAGAGAAAGAACATTTAATTCTAATCATCATACCTTTTGGACATGATTTTAAGTCTTGAAACTTTAGGATTGTTTTCTTCGCGACTGAAAGAACTAGGTTGAGTGTATTGCTAACATACTATGTAGGATAATCATGCCCATTCTATCCATAGCTGTTCAGGACTTGTACAAAATTCTGATTATATGAAATAATTGTAATAATCACCTAGGATGATGATTCTTTGGCAATTTTTATTGGTATTTTACAGACATTTATATACTTAATTTCCATTATTTTGAAACCTTACATTGCCTATATTGCCATGGAAGTATATATTATTTCCTCTCTGAGAAACTTGGCATTTAGAAGGCACATTGCTGAATTGTATTGTCACATTTTGTGTTATATGCTTTCTCAGTTTTGTACCCATTAATTAAAACAAATTATCTTCATCAATTTATTCAGCGAATAGGTCATGGTGATAAAAACCACACCGATGCTGACCGTTCTCCTATTTTTCTCCAGTTTATTGATTGTGTGTGGCAAATGTCAAAACAGGTAAGGAATATGAGGGATGAAAATACATTCAACTCATTGTTTAAATTAAACATTTTAATATAATGATTGGGATTTGACCCCAAAATAATACAGGGTAGAGCTAGAGATGAAGCAAGACTGGGCATGTGTGAATACTTGCAGAAGCCAGGTACATGAGCGTTCACCTTTTTATTCCTGCTACTATTGATATATCTGGGATTTTCCCTAATAAAGTTTTAAAAATTAAGTATTTAACTCTGATGTCTCTACTAGTGGAATTGACAATACCAAGTCGTCGTTTATATACATTTTACACTGACCCTTATATATAGCTGTGTCTGCTATCTCATAATAGCTTAAATAACTAAACTACACTGTACCTGCAGGAGAACCCAGAAAATCAGCCTGTTTATCTCATTTTCCTCTTTATTGCTTTATTTAACACTTAAAGTGCTCAGACCTATATAAACTGCTAAAAAAAGAACAACTGTAGTGTGTGTGCAGATTACAGCCTCTGCTGTCCTTCCTAGAGCCCTACAATGTGGCAGCATTTGTTTACTTCTACAGTGTATCTTTCTAATTTTATAAAGTTTCAGTCCCAGTTTTTCATGCTTTGTTTGCTTGTTTTTGTTTAGTTCCCTACAGCTTTTGAATTCAATGAACAATTTTTGATTATAATTTTGGATCATCTGTATAGTTGCCGATTTGGTACTTTCTTATTCAACTGTGAATCTGCTCGAGAAAGGTGAGTTAAAATGCTATTTTTTTTGATACATTAGGCTTGCCAAAATGTATGTAGTCTACCATGAAATATAAAAAATATGATAGCTTGTAAGACACTGTCTTTGACCTCAAAGAGTAGGAATTACATTAAAGGTATGCATTTTGTGTTATATAAAGGAATACCTGAGGCTGGGTAACTTACAAAGAAAAGAGGTTTAATTAGCTCACAGTTCTGCAGGCTGTACAAGGAGCATAGTGCCGGCATCTGCTTAGTTTCTGGTGAGAGCCTCAGGCTGCTTCCACTCATGGCAGAAGGTGAAGGGGAGCCAGTGTGTAGAGATCATATGGTGGAAGAGGAAGCAAGAGAGAGGGGAGAGGGTGCCAGGCTCTTTGTAACAACTCAGCTGTCTTGGTAACTAATATAGAGTGACAACAAACACCTAAGAGAGAGCATTAATCTGTTCATGAGGGACCTGTCCTCATGACCCAAACACCTCCCACTAGGTCCCACCTCCAAAATTGGGGATCAGATTTCTTTTTCTTTATTTTTTTGTTTGTTTGTTGTTGTTGTTGTTGTTTGAGACAGGGTTTCACTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTTCCTGGCTTAAGCAAGATTCTCCCACCTCAGCCTCCTGAGTAGGTGGGACCACAGGTGCACACCACCACAGCTAGCTAATTTTTGTAGTTTTAGTAGTGATGGGGTTTTGCCATGTTACCTGGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACCCGCCTCACCCTCCCAAAGTGCTGGGATTGCAGGTGTGAACCACTGCGCCCAGCCTGGCGATCAGATTTCAACATGAGGTTTGGAGAGAACAAATATTCAAACTATGACAGAGGTTCCCCCAAAAGTAAAAATATAGCTACCATACGATCCAGCACTCCCACTATTGGGTACATATCTAAAGGAAATGAAATCATCATGTCAAAGAGGTTATCTGCAATCTCATGTATATTGCAGCAGTATTCACAGTAGCCAAGATATGGACTCAACCTGTGTCCATCAACAGATGAATAAAGAAAACGTAGTACCTATATACAGTAGACTACTACTCAGCCATAAAAAATGAAATCCTACCATTTGCAACAACATAAGTAAATCTGGAGGACATTATGCTAAGCGAAATAAACCAGGCACAGAAAGACAAATACCACATGATTTCCCTTATGTGTGGAATCTAAGAAAACTTGAACCTATAGTAACAGAGAGTAGAAGGGTAGTTACCAGGGGCTGGGGAAGGGGTAAGGGAAAGAGGAACATAGTGGTCAAAAGATACAAACCTTCAGTTATAAGTACTAAAGACCTAATGTGCAGTATGGTAATTATAGTTAATAATAATGTATATTTGAAATTTGCTAAAATAATAGATCTCAAGTGTTCTCACTGCAAAAAAAATTGGTAACTATATGAGGTGACAGATGTTAATTAGCTTGATTGAGGTGATTATTTCATAATGTATACATATATCAAAATATCACATCGTATACCTTAAATATATACAGTTTTTATTTGTCAGTTGTAAATAATACTGGGGGAAAAACACAATTGTTTCTGGGAAAAGAGGTGAGAGAGAGCACTTTTTTTCATAACCTTGTCAAACTATTTGACTTTTTAAACTATGTGCATATATAAAAATAAAAAGAGTAACATGCAAATAAATACAATGTGGTATATAGATTTTGGCATCAAAAAGGTACAACTGAGGTTTTAGGTGGATTCAGAGAAAGGCAAAATTATGCTGTCGTTATTCATGAAATGAAATACATATGTTTAAGACATTTCTTTTATTTTTCTTTTGAGATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCTGTGGCGCGATCACGGCTCACTGCAACCTCTGCCCCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACTCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGCTTCACCATNNNN
|
pathogenic
| 339,991 |
Regarding the variant found on chromosome X at position 150663473 in gene MTM1 (myotubularin 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
TCCCACTATTGGGTACATATCTAAAGGAAATGAAATCATCATGTCAAAGAGGTTATCTGCAATCTCATGTATATTGCAGCAGTATTCACAGTAGCCAAGATATGGACTCAACCTGTGTCCATCAACAGATGAATAAAGAAAACGTAGTACCTATATACAGTAGACTACTACTCAGCCATAAAAAATGAAATCCTACCATTTGCAACAACATAAGTAAATCTGGAGGACATTATGCTAAGCGAAATAAACCAGGCACAGAAAGACAAATACCACATGATTTCCCTTATGTGTGGAATCTAAGAAAACTTGAACCTATAGTAACAGAGAGTAGAAGGGTAGTTACCAGGGGCTGGGGAAGGGGTAAGGGAAAGAGGAACATAGTGGTCAAAAGATACAAACCTTCAGTTATAAGTACTAAAGACCTAATGTGCAGTATGGTAATTATAGTTAATAATAATGTATATTTGAAATTTGCTAAAATAATAGATCTCAAGTGTTCTCACTGCAAAAAAAATTGGTAACTATATGAGGTGACAGATGTTAATTAGCTTGATTGAGGTGATTATTTCATAATGTATACATATATCAAAATATCACATCGTATACCTTAAATATATACAGTTTTTATTTGTCAGTTGTAAATAATACTGGGGGAAAAACACAATTGTTTCTGGGAAAAGAGGTGAGAGAGAGCACTTTTTTTCATAACCTTGTCAAACTATTTGACTTTTTAAACTATGTGCATATATAAAAATAAAAAGAGTAACATGCAAATAAATACAATGTGGTATATAGATTTTGGCATCAAAAAGGTACAACTGAGGTTTTAGGTGGATTCAGAGAAAGGCAAAATTATGCTGTCGTTATTCATGAAATGAAATACATATGTTTAAGACATTTCTTTTATTTTTCTTTTGAGATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCTGTGGCGCGATCACGGCTCACTGCAACCTCTGCCCCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACTCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGCAATTACAGGCGTGAGCCACCACACCCGGCCACGAAATTTCTTTAGTCACTTATTTTGGGATGTTCTTTTTGGTTTCCAGTTTTAGCTTATTGCTCTTTTCTTATTAAAGTCATTACTAGGAAAAGTTTCAGATTCTACCTTTGGTAATTTTAATTCTTGTATTTTTATTTCCCTAGCTTTGATGTTTTTTTTTTTTCTTCCTCTCTCTAGTTTATGGTCAAAATTTTGTAAACGCCTGCAATAAAAAGCAATGAAAATGTGAATATCTTTATGAGATGGCAACACTAGGCTGAAAAGCTTAGACTTCGTGTAGTCAGTTATCCAGATGTTTTCAAAGATATGGATGTTGACATGATGTAGATTAAACATCTGGATGGTTGATTAAAATAACTGTGTCCAGATGCCTACTGTCAAGTAGACACAGATTAAGATTTCATAGTTCCAACAAATGGAAAAGTTTTAAAAGTCATTGGGATCTTAGGATAATTTTTCTTTTCACTGAATTAAAAAGAGTATACCACCCATCTGTTCATAAATGTTTTACCTAGCTGGGAATACTCTTCTTTGGTCAGTGAATTGCATTTAATGGTACAGTATCCTGCGCCCCTGTCTTCAGGCAGAAATAGTGGCTCTCAAGCTAGGCCATTACCTATGCAAATATCGATAAGTGGCTGCCAAGCACTCACTGGCCCATGAGGCTTTTTGAGCTATTATGAGGATAATGTAAATGTGTGATTCAATTTGATGCTGAACTGTATTGCTACAGGCTGCAAAATGGTTTGTGGATTTATGTGTGTTTTTACTTAGGCTCTCCACTTTCTCTCTCTGTCTCTCTGTAGAAGGTTACAGAAAGGACTGTTTCTTTATGGTCACTGATAAACAGTAATAAAGAAAAATTCAAAAACCCCTTCTATACTAAAGAAATCAATCGAGTTTTATATCCAGTTGCCAGTATGCGTCACTTGGAACTCTGGGTGAATTACTACATTAGATGGAACCCCAGGATCAAGCAACAAGTAAGTGAAGTAGCACTGTTAAAAGATAGCAATGTCAACTGCTTGCCTTAGATAATGTTATTTGGTATGGATTTTTTTTAACAGCATGAAGAAAAATATCAGACTCTAAAAACACACTTATTGTTAAACTCAACCTTAATTTAAATTTTTTTTAATTACTAAACCATGTGTTTTGATGTTAAGCTGCAATTCTTCTGCCAATGTGATATAATTGTTTACTATAATGCAAGCTGATTTAAAGCTCTAGAAAATTTGAGTTTTCATAGCCAGAGATTTCCTTTGATCACTTGAAGTAGTTATTCATTATATAGACATTGTTTGAAAATTCTTTACATTGACTAGACTTAGATGATCCTGTTAAGAAAATGTTTGCTACTCTCATTCAGGTGTATGCACTAGATCAGCTAACATCAGATTGCTTTTCACTGAGGGTATTTACTTCTAAAATAAAGATAATTACTCTGTCAATGGTAGTAAATTCAGTTGGCCATTTATCAAACAAAAATGGAAACAATGAGTTTGAAGTGAAAGACTCTACATTTTGTTAAAGACACACTTGGGCTTTCCATTCTCCCACCTCCACTCCATCCATAATCAGAAGGAAAAACAGCCTGCAGTACTTCAGTTTATTGATTTGTTCTAAGCATTATAAATATTCAGTATTTGTGATGGTTCTTTGTAAAGGTTTGCACATTTTCCTGCAGTGTGGGTGGTCGACTACCTGTTCTCACAGTTCAGTCTTGCATAAGCACCAGCTTTAATGCCAGAAATAGGCTGGCCACAGCAGGGTCCCATAGCTGTGGCCTCTCTCTCAGATTGTTCATTCCTCTCAGGCAGTTGGCTGCATGCCAGTCTGTGCCCTACCTCCTCACTGGAGAAGTGCCCATTTCAAGCTGGCACCCTCATTTCAAGGTCTGTGCTACTCACGTGAAAGGCTTTTGCAATTTGGTAATGGTTGAAATGTGTATTCTTTTGGAAAGTGACAGATTCCAGGGCTTGAGAACATTCACTTGTTTAGTTTGGAATTTGAGAAGCACATGGGAGGAATTTATTTAACAGTAGTTCTAGCATTTTGGAATATCAAGTAAAGAATAAATAATAATCCTTACAGAATTCTAACTGCTTTTACAAGAGATGTGTTCCTTATTAAAAAATGTTTTTATAGATGAGCACTGTGTTTGTCCTATAAAATAAGCCTTTTCCATATTTGTCATGGCTTGTTTTTAAAATATTGGCAATGAGAAAGTACGGACAGTTTTTGTGTAAGTCCTGTAATCTCTTCTCACCCATTTGTACTTGGAGAAATTCTTGAAATTCAAGGAATTTGGAGCAGTTCATTTCTGAATTCCTAAAGGTAATAATGATAATTGTGTGACAGGTCAAGTTTGAGGGTACATCATTAGAAGAACTTCTTAGAATGTATTTATCCCCCTTAGTCTCACAGATCTTGGCAAAATGGAACTGGCCTGGAGAGGAGTGCTCATTCTCTGGTAGGGGTTTTTACTTCGAGACAGGAATTGGCCTATATTATGATCTATTGGCATGAATTCAGAAAAGAAATAACTTATCCTTTCTATGTGGATTTTCTGAATATGAAGGATCCTACACACATCTTTATCTCCCTAGGCACTTTGTGTTTTCATCTACCAAATATTGAATGTTCTCATGCGTCAGGCACTAGGGGGATGCAGAGATTAAGAAGAAATGGTCTCCGCCCATGAGTAGCTCCCAAGCTGGTAGGGGCGGCCAGAAACATAAGCCAATGGTTATAATGCACAGGGATAAGTGTAAGAATAAAAGTATGAATTAAGTACATTAGGTTTGCTTAAAGATCTGCTTATGTAGAACATTATTTCATACAGAAATAGATTAAATCGCATAGGACTTTTAAAAGTACATAATATAAACCTA
|
TCCCACTATTGGGTACATATCTAAAGGAAATGAAATCATCATGTCAAAGAGGTTATCTGCAATCTCATGTATATTGCAGCAGTATTCACAGTAGCCAAGATATGGACTCAACCTGTGTCCATCAACAGATGAATAAAGAAAACGTAGTACCTATATACAGTAGACTACTACTCAGCCATAAAAAATGAAATCCTACCATTTGCAACAACATAAGTAAATCTGGAGGACATTATGCTAAGCGAAATAAACCAGGCACAGAAAGACAAATACCACATGATTTCCCTTATGTGTGGAATCTAAGAAAACTTGAACCTATAGTAACAGAGAGTAGAAGGGTAGTTACCAGGGGCTGGGGAAGGGGTAAGGGAAAGAGGAACATAGTGGTCAAAAGATACAAACCTTCAGTTATAAGTACTAAAGACCTAATGTGCAGTATGGTAATTATAGTTAATAATAATGTATATTTGAAATTTGCTAAAATAATAGATCTCAAGTGTTCTCACTGCAAAAAAAATTGGTAACTATATGAGGTGACAGATGTTAATTAGCTTGATTGAGGTGATTATTTCATAATGTATACATATATCAAAATATCACATCGTATACCTTAAATATATACAGTTTTTATTTGTCAGTTGTAAATAATACTGGGGGAAAAACACAATTGTTTCTGGGAAAAGAGGTGAGAGAGAGCACTTTTTTTCATAACCTTGTCAAACTATTTGACTTTTTAAACTATGTGCATATATAAAAATAAAAAGAGTAACATGCAAATAAATACAATGTGGTATATAGATTTTGGCATCAAAAAGGTACAACTGAGGTTTTAGGTGGATTCAGAGAAAGGCAAAATTATGCTGTCGTTATTCATGAAATGAAATACATATGTTTAAGACATTTCTTTTATTTTTCTTTTGAGATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCTGTGGCGCGATCACGGCTCACTGCAACCTCTGCCCCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACTCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGCAATTACAGGCGTGAGCCACCACACCCGGCCACGAAATTTCTTTAGTCACTTATTTTGGGATGTTCTTTTTGGTTTCCAGTTTTAGCTTATTGCTCTTTTCTTATTAAAGTCATTACTAGGAAAAGTTTCAGATTCTACCTTTGGTAATTTTAATTCTTGTATTTTTATTTCCCTAGCTTTGATGTTTTTTTTTTTTCTTCCTCTCTCTAGTTTATGGTCAAAATTTTGTAAACGCCTGCAATAAAAAGCAATGAAAATGTGAATATCTTTATGAGATGGCAACACTAGGCTGAAAAGCTTAGACTTCGTGTAGTCAGTTATCCAGATGTTTTCAAAGATATGGATGTTGACATGATGTAGATTAAACATCTGGATGGTTGATTAAAATAACTGTGTCCAGATGCCTACTGTCAAGTAGACACAGATTAAGATTTCATAGTTCCAACAAATGGAAAAGTTTTAAAAGTCATTGGGATCTTAGGATAATTTTTCTTTTCACTGAATTAAAAAGAGTATACCACCCATCTGTTCATAAATGTTTTACCTAGCTGGGAATACTCTTCTTTGGTCAGTGAATTGCATTTAATGGTACAGTATCCTGCGCCCCTGTCTTCAGGCAGAAATAGTGGCTCTCAAGCTAGGCCATTACCTATGCAAATATCGATAAGTGGCTGCCAAGCACTCACTGGCCCATGAGGCTTTTTGAGCTATTATGAGGATAATGTAAATGTGTGATTCAATTTGATGCTGAACTGTATTGCTACAGGCTGCAAAATGGTTTGTGGATTTATGTGTGTTTTTACTTAGGCTCTCCACTTTCTCTCTCTGTCTCTCTGTAGAAGGTTACAGAAAGGACTGTTTCTTTATGGTCACTGATAAAAGTAATAAAGAAAAATTCAAAAACCCCTTCTATACTAAAGAAATCAATCGAGTTTTATATCCAGTTGCCAGTATGCGTCACTTGGAACTCTGGGTGAATTACTACATTAGATGGAACCCCAGGATCAAGCAACAAGTAAGTGAAGTAGCACTGTTAAAAGATAGCAATGTCAACTGCTTGCCTTAGATAATGTTATTTGGTATGGATTTTTTTTAACAGCATGAAGAAAAATATCAGACTCTAAAAACACACTTATTGTTAAACTCAACCTTAATTTAAATTTTTTTTAATTACTAAACCATGTGTTTTGATGTTAAGCTGCAATTCTTCTGCCAATGTGATATAATTGTTTACTATAATGCAAGCTGATTTAAAGCTCTAGAAAATTTGAGTTTTCATAGCCAGAGATTTCCTTTGATCACTTGAAGTAGTTATTCATTATATAGACATTGTTTGAAAATTCTTTACATTGACTAGACTTAGATGATCCTGTTAAGAAAATGTTTGCTACTCTCATTCAGGTGTATGCACTAGATCAGCTAACATCAGATTGCTTTTCACTGAGGGTATTTACTTCTAAAATAAAGATAATTACTCTGTCAATGGTAGTAAATTCAGTTGGCCATTTATCAAACAAAAATGGAAACAATGAGTTTGAAGTGAAAGACTCTACATTTTGTTAAAGACACACTTGGGCTTTCCATTCTCCCACCTCCACTCCATCCATAATCAGAAGGAAAAACAGCCTGCAGTACTTCAGTTTATTGATTTGTTCTAAGCATTATAAATATTCAGTATTTGTGATGGTTCTTTGTAAAGGTTTGCACATTTTCCTGCAGTGTGGGTGGTCGACTACCTGTTCTCACAGTTCAGTCTTGCATAAGCACCAGCTTTAATGCCAGAAATAGGCTGGCCACAGCAGGGTCCCATAGCTGTGGCCTCTCTCTCAGATTGTTCATTCCTCTCAGGCAGTTGGCTGCATGCCAGTCTGTGCCCTACCTCCTCACTGGAGAAGTGCCCATTTCAAGCTGGCACCCTCATTTCAAGGTCTGTGCTACTCACGTGAAAGGCTTTTGCAATTTGGTAATGGTTGAAATGTGTATTCTTTTGGAAAGTGACAGATTCCAGGGCTTGAGAACATTCACTTGTTTAGTTTGGAATTTGAGAAGCACATGGGAGGAATTTATTTAACAGTAGTTCTAGCATTTTGGAATATCAAGTAAAGAATAAATAATAATCCTTACAGAATTCTAACTGCTTTTACAAGAGATGTGTTCCTTATTAAAAAATGTTTTTATAGATGAGCACTGTGTTTGTCCTATAAAATAAGCCTTTTCCATATTTGTCATGGCTTGTTTTTAAAATATTGGCAATGAGAAAGTACGGACAGTTTTTGTGTAAGTCCTGTAATCTCTTCTCACCCATTTGTACTTGGAGAAATTCTTGAAATTCAAGGAATTTGGAGCAGTTCATTTCTGAATTCCTAAAGGTAATAATGATAATTGTGTGACAGGTCAAGTTTGAGGGTACATCATTAGAAGAACTTCTTAGAATGTATTTATCCCCCTTAGTCTCACAGATCTTGGCAAAATGGAACTGGCCTGGAGAGGAGTGCTCATTCTCTGGTAGGGGTTTTTACTTCGAGACAGGAATTGGCCTATATTATGATCTATTGGCATGAATTCAGAAAAGAAATAACTTATCCTTTCTATGTGGATTTTCTGAATATGAAGGATCCTACACACATCTTTATCTCCCTAGGCACTTTGTGTTTTCATCTACCAAATATTGAATGTTCTCATGCGTCAGGCACTAGGGGGATGCAGAGATTAAGAAGAAATGGTCTCCGCCCATGAGTAGCTCCCAAGCTGGTAGGGGCGGCCAGAAACATAAGCCAATGGTTATAATGCACAGGGATAAGTGTAAGAATAAAAGTATGAATTAAGTACATTAGGTTTGCTTAAAGATCTGCTTATGTAGAACATTATTTCATACAGAAATAGATTAAATCGCATAGGACTTTTAAAAGTACATAATATAAACCTAN
|
pathogenic
| 339,996 |
Gene mutation in MTM1 (myotubularin 1) at chromosome X, position 150671571—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Severe_X-linked_myotubular_myopathy']
|
AGCATCTATCATTTCCTGACTTTTTAATAATCGCCATTCTGACTGGCATGAGATGGTATCTCACTGCGGTTTTGATTTGCATTTCTCTGATGATCAGTGATGATGAGCTTTTTTTCATATCTTTGTTGGCCGCATTGTGTGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTTGCCTACTTTCTGATGGGGTTGTTTATCTTTTATTTTTATAAATATGTTTAAGTTCCTTGTAAATTCTGAATATTAGACCTTTGTCAGATGAGTAGATTGCAAAAATTTTCTCTTATTCTATAGATTGCCTGTTCACTCTGATGCTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCAATTGTTTTTGGTGTTTTTGTCATGAAGTCTTTCCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTCATGGTTTTGGGTTTTACATTAAGGTCTTCATATATTGCTTAAGCTTTCTAGAAAGTGCTTGCCCCTGATCCCTTCAAAACATTAACTTTCTGGAGTACTGTTCTGTTGTATATCTTGACCTGGGTGTGATTACCTAAATGTATACGTATGTCAAGATTCACTGAGCTGAACATCTGAAGATTTTGCACTGTGTGTGGTTTATATCTCAGTACAAAACTTTTAAAACTTAACATGCTGGGAGAGTCACGTTATGCTCCAGCCTGACTTCTGCCTTTGTATCAACATCAATCCCTTGTTTACTCATCAAAGTAGTCACCATTGTAGCAAAACAGATGCTATTAACTCACTTCACTCACACAATGCCATGTGAGGGCTATGCTGTTTTGATTCCCATTTTACAGATAGGGAAATGGAGGCACACAGAAGGTGAGGGGGCAAACCCAGCATTCATACCCAAGGCGGAGCATTGCAGAGCCGCTATGGCTGTCAGCCATGTATTCAGATGGGCAATAAGCACATGAAAAGATGTTCTAGCAGAGCAATACAAACGAAAACTACCGTGACATACCATGTCACAGCCCTCAAATTGGAAAAAAGAATAATAATCGTATGCTCCCAAGTTCTAGTGAGAATGCAGAACAATGGGAACTGCCAGGTATCACCAGCAGGAGCCTCTCTGCAGGCAATTTGGCAGCATCTGGTGAGGTTGAAAAGACCATATTCTACTTCTCAGCAGTTCCACCCCTAGGAAAATTCCTTAGAGAAACACTCGCATATGTGCTTGAGGAGATGTGTACAAGGATACTCAGTACAGCATTGAACACACTACCGAGGAGCCCTGGAAATCACTGATTACCCATCAGCCTGGGAAGGGGTGGAGAAACTGGTTTATTCCTTCAATGCAACTTAACAAGGATGAAATTCAGAAAACATGTTGGGTCAAAATGTCAATTGATAAATACCAGATGGTACCAGTGATGTAAACTTTGATAAAACACAAAGTAATACTGTATTTTGTTGCTGGATACTCACAGGAAAAGTGTCACAAATCTGCACAAAAAGGAAGGTCACATGGCAACTTGAGAAGAGTTGTCCCTCAGAGTGAAAGAGGACAGTGGGTCTGGGACGGGCAACACGGGAGACTGGAGCTGTGTCTCGGCTGACACATTTTCAAAGATAGTGACACGTGTGAGGAAATGTGTACATTAGGTATTTCTTGGTGAACAAATACTTAGTACTTGGGTGTTTAGTACTCTGTGTTGTACTTTCCTGTATGTGTCAATGAGGCAGTAGTTAAGGAAAGTATGTATTATGGTAAACTTTGAGTAAAGGGCTTATTTACAAATCAGCAGTCACAGCAGATGGGTGGAACACGTGAGTTCTCATGACGTGCGTGGCATAAAGTGTAACTCAAGTCTCTGGTTCTCTCCAGCAGCCGAATCCAGTGGAGCAGCGTTACATGGAGCTCTTAGCCTTACGCGACGAATACATAAAGCGGCTTGAGGAACTGCAGCTCGCCAACTCTGCCAAGCTTTCTGATCCCCCAACTTCACCTTCCAGTCCTTCGCAAATGATGCCCCATGTGCAAACTCACTTCTGAGGGGGGACCCTGGCACCGCATTAGAGCTCGAAATAAAGGCGATAGCTGACTTTCATTTGGGGCATTTGTAAAAAGTAGATTAAAATATTTGCCTCCATGTAGAACTTGAACTAACATAATCTTAAACTCTTGAATATGTGCCTTCTAGAATACATATTACAAGAAAACTACAGGGTCCACACGGCAATCAGAAGAAAGGAGCTGAGATGAGGTTTTGGAAAACCCTGACACCTTTAAAAAGCAGTTTTTGAAAGACAAAATTTAGATTTAATTTACGTCTTGAGAAATACTATATATACAATATATATTTTGTGGGCTTAATTGAAACAACATTATTTTAAAATCAAAGGGGATATATGTTTGTGGAATGGATTTTCCTGAAGCTGCTTAACAGTTGCTTTGGATTCTCTAAGATGAATCCAAATGTGAAAGATGCATGTTACTGCCAAAACCAAATTGAGCTCAGCTTCCTAGGCATTACCCAAAAGCAAGGTGTTTAAGTAATTGCCAGCTTTTATACCATCATGAGTGGTGACTTAAGGAGAAATAGCTGTATAGATGAGTTTTTCATTATTTGGAAATTTAGGGGTAGAAAATGTTTTCCCCTAATTTTCCAGAGAAGCCTATTTTTATATTTTTAAAAAACTGACAGGGCCCAGTTAAATATGATTTGCATTTTTTAAATTTGCCAGTTTTATTTTCTAAATTCTTTCATGAGCTTGCCTAAAATTCGGAATGGTTTTCGGGTTGTGGCAAACCCCAAAGAGAGCACTGTCCAAGGATGTCGGGAGCATCCTGCTGCTTAGGGGAATGTTTTCGCAAATGTTGCTCTAGTCAGTCCAGCTCATCTGCCAAAATGTAGGGCTACCGTCTTGGATGCATGAGCTATTGCTAGAGCATCATCCTTAGAAATCAGTGCCCCAGATGTACATGTGTTGAGCGTATTCTTGAAAGTATTGTGTTTATGCATTTCAATTTCAATGGTGTTGGCTTCCCCTCCCCACCCCACGCGTGCATAAAAACTGGTTCTACAAATTTTTACTTGAAGTACCAGGCCGTTTGCTTTTTCAGGTTGTTTTGTTTTATAGTATTAAGTGAAATTTTAAATGCACAGTTCTATTTGCTATCTGAACTAATTCATTTATTAAGTATATTTGTAAAAGCTAAGGCTCGAGTTAAAACAATGAAGTGTTTTACAATGATTTGTAAAGGACTATTTATAACTAATATGGTTTTGTTTTCAATGAATTAAGAAAGATTAAATATATCTTTGTAAATTATTTTATGTCATAGTTTAATTGGTCTACCAAGTAAGACATCTCAAATACAGTAGTATAATGTATGAATTTTGTAAGTATAAGAAATTTTATTAGACATTCTCTTACTTTTTGTAAATGCTGTAAATATTTCATAAATTAACAAAGTGTCACTCCATAAAAAGAAAGCTAATACTAATAGCCTAAAAGATTTTGTGAAATTTCATGAAAACTTTTTAATGGCAATAATGACTAAAGACCTGCTGTAATAAATGTATTAACTGAAACCTAACACTGTTTTCAGGGCTGTGAGTGTGCATGTGTTGGAAATGTGCATGGTGGCCATCTGATTTCTTTGCCCGGGTCTGCTTCATGTACTTTTTATCTCACCGGCAACCTTGCAGGGCTCTCCCAAAATTTCAGCAAGATTGGGCATTTAAGTGTATTAAACAGTGCAGATTTTAAGAGTCACGACTGTCTATGAGGATGGCTTTTGCAAAAGTGAACGCGCAAAACTCCAGGCTCTGAATAGGGAACACAGCAGTTGATAGTAAGGGATGCGAAGATACTGGTTAAATAAGCCATAGTTGACGTCTCATTAGGTAAGAATTTTTAAAATTCTTCAAACAATATTGCCAGTTGGAGATTATGTCGTTTACATATGTACGTTCTAAGAATGCTGAATAGTTGTAGCAGTAAACTAAAATTGACCATTTTTTGGCAATCAGAATAGATCACGTGGAACAGAGCTTAAAGAAAAAAAATCA
|
AGCATCTATCATTTCCTGACTTTTTAATAATCGCCATTCTGACTGGCATGAGATGGTATCTCACTGCGGTTTTGATTTGCATTTCTCTGATGATCAGTGATGATGAGCTTTTTTTCATATCTTTGTTGGCCGCATTGTGTGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTTGCCTACTTTCTGATGGGGTTGTTTATCTTTTATTTTTATAAATATGTTTAAGTTCCTTGTAAATTCTGAATATTAGACCTTTGTCAGATGAGTAGATTGCAAAAATTTTCTCTTATTCTATAGATTGCCTGTTCACTCTGATGCTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCAATTGTTTTTGGTGTTTTTGTCATGAAGTCTTTCCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTCATGGTTTTGGGTTTTACATTAAGGTCTTCATATATTGCTTAAGCTTTCTAGAAAGTGCTTGCCCCTGATCCCTTCAAAACATTAACTTTCTGGAGTACTGTTCTGTTGTATATCTTGACCTGGGTGTGATTACCTAAATGTATACGTATGTCAAGATTCACTGAGCTGAACATCTGAAGATTTTGCACTGTGTGTGGTTTATATCTCAGTACAAAACTTTTAAAACTTAACATGCTGGGAGAGTCACGTTATGCTCCAGCCTGACTTCTGCCTTTGTATCAACATCAATCCCTTGTTTACTCATCAAAGTAGTCACCATTGTAGCAAAACAGATGCTATTAACTCACTTCACTCACACAATGCCATGTGAGGGCTATGCTGTTTTGATTCCCATTTTACAGATAGGGAAATGGAGGCACACAGAAGGTGAGGGGGCAAACCCAGCATTCATACCCAAGGCGGAGCATTGCAGAGCCGCTATGGCTGTCAGCCATGTATTCAGATGGGCAATAAGCACATGAAAAGATGTTCTAGCAGAGCAATACAAACGAAAACTACCGTGACATACCATGTCACAGCCCTCAAATTGGAAAAAAGAATAATAATCGTATGCTCCCAAGTTCTAGTGAGAATGCAGAACAATGGGAACTGCCAGGTATCACCAGCAGGAGCCTCTCTGCAGGCAATTTGGCAGCATCTGGTGAGGTTGAAAAGACCATATTCTACTTCTCAGCAGTTCCACCCCTAGGAAAATTCCTTAGAGAAACACTCGCATATGTGCTTGAGGAGATGTGTACAAGGATACTCAGTACAGCATTGAACACACTACCGAGGAGCCCTGGAAATCACTGATTACCCATCAGCCTGGGAAGGGGTGGAGAAACTGGTTTATTCCTTCAATGCAACTTAACAAGGATGAAATTCAGAAAACATGTTGGGTCAAAATGTCAATTGATAAATACCAGATGGTACCAGTGATGTAAACTTTGATAAAACACAAAGTAATACTGTATTTTGTTGCTGGATACTCACAGGAAAAGTGTCACAAATCTGCACAAAAAGGAAGGTCACATGGCAACTTGAGAAGAGTTGTCCCTCAGAGTGAAAGAGGACAGTGGGTCTGGGACGGGCAACACGGGAGACTGGAGCTGTGTCTCGGCTGACACATTTTCAAAGATAGTGACACGTGTGAGGAAATGTGTACATTAGGTATTTCTTGGTGAACAAATACTTAGTACTTGGGTGTTTAGTACTCTGTGTTGTACTTTCCTGTATGTGTCAATGAGGCAGTAGTTAAGGAAAGTATGTATTATGGTAAACTTTGAGTAAAGGGCTTATTTACAAATCAGCAGTCACAGCAGATGGGTGGAACACGTGAGTTCTCATGACGTGCGTGGCATAAAGTGTAACTCAAGTCTCTGGTTCTCTCCAGCAGCCGAATCCAGTGGAGCAGCGTTACATGGAGCTCTTAGCCTTACGCGACGAATACATAAAGCGGCTTGAGGAACTGCAGCTCGCCAACTCTGCCAAGCTTTCTGATCCCCCAACTTCACCTTCCAGTCCTTCGCAAATGATGCCCATGTGCAAACTCACTTCTGAGGGGGGACCCTGGCACCGCATTAGAGCTCGAAATAAAGGCGATAGCTGACTTTCATTTGGGGCATTTGTAAAAAGTAGATTAAAATATTTGCCTCCATGTAGAACTTGAACTAACATAATCTTAAACTCTTGAATATGTGCCTTCTAGAATACATATTACAAGAAAACTACAGGGTCCACACGGCAATCAGAAGAAAGGAGCTGAGATGAGGTTTTGGAAAACCCTGACACCTTTAAAAAGCAGTTTTTGAAAGACAAAATTTAGATTTAATTTACGTCTTGAGAAATACTATATATACAATATATATTTTGTGGGCTTAATTGAAACAACATTATTTTAAAATCAAAGGGGATATATGTTTGTGGAATGGATTTTCCTGAAGCTGCTTAACAGTTGCTTTGGATTCTCTAAGATGAATCCAAATGTGAAAGATGCATGTTACTGCCAAAACCAAATTGAGCTCAGCTTCCTAGGCATTACCCAAAAGCAAGGTGTTTAAGTAATTGCCAGCTTTTATACCATCATGAGTGGTGACTTAAGGAGAAATAGCTGTATAGATGAGTTTTTCATTATTTGGAAATTTAGGGGTAGAAAATGTTTTCCCCTAATTTTCCAGAGAAGCCTATTTTTATATTTTTAAAAAACTGACAGGGCCCAGTTAAATATGATTTGCATTTTTTAAATTTGCCAGTTTTATTTTCTAAATTCTTTCATGAGCTTGCCTAAAATTCGGAATGGTTTTCGGGTTGTGGCAAACCCCAAAGAGAGCACTGTCCAAGGATGTCGGGAGCATCCTGCTGCTTAGGGGAATGTTTTCGCAAATGTTGCTCTAGTCAGTCCAGCTCATCTGCCAAAATGTAGGGCTACCGTCTTGGATGCATGAGCTATTGCTAGAGCATCATCCTTAGAAATCAGTGCCCCAGATGTACATGTGTTGAGCGTATTCTTGAAAGTATTGTGTTTATGCATTTCAATTTCAATGGTGTTGGCTTCCCCTCCCCACCCCACGCGTGCATAAAAACTGGTTCTACAAATTTTTACTTGAAGTACCAGGCCGTTTGCTTTTTCAGGTTGTTTTGTTTTATAGTATTAAGTGAAATTTTAAATGCACAGTTCTATTTGCTATCTGAACTAATTCATTTATTAAGTATATTTGTAAAAGCTAAGGCTCGAGTTAAAACAATGAAGTGTTTTACAATGATTTGTAAAGGACTATTTATAACTAATATGGTTTTGTTTTCAATGAATTAAGAAAGATTAAATATATCTTTGTAAATTATTTTATGTCATAGTTTAATTGGTCTACCAAGTAAGACATCTCAAATACAGTAGTATAATGTATGAATTTTGTAAGTATAAGAAATTTTATTAGACATTCTCTTACTTTTTGTAAATGCTGTAAATATTTCATAAATTAACAAAGTGTCACTCCATAAAAAGAAAGCTAATACTAATAGCCTAAAAGATTTTGTGAAATTTCATGAAAACTTTTTAATGGCAATAATGACTAAAGACCTGCTGTAATAAATGTATTAACTGAAACCTAACACTGTTTTCAGGGCTGTGAGTGTGCATGTGTTGGAAATGTGCATGGTGGCCATCTGATTTCTTTGCCCGGGTCTGCTTCATGTACTTTTTATCTCACCGGCAACCTTGCAGGGCTCTCCCAAAATTTCAGCAAGATTGGGCATTTAAGTGTATTAAACAGTGCAGATTTTAAGAGTCACGACTGTCTATGAGGATGGCTTTTGCAAAAGTGAACGCGCAAAACTCCAGGCTCTGAATAGGGAACACAGCAGTTGATAGTAAGGGATGCGAAGATACTGGTTAAATAAGCCATAGTTGACGTCTCATTAGGTAAGAATTTTTAAAATTCTTCAAACAATATTGCCAGTTGGAGATTATGTCGTTTACATATGTACGTTCTAAGAATGCTGAATAGTTGTAGCAGTAAACTAAAATTGACCATTTTTTGGCAATCAGAATAGATCACGTGGAACAGAGCTTAAAGAAAAAAAATCAN
|
pathogenic
| 340,000 |
Mutation at chromosome X, position 152858752, within NSDHL (NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL): benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
TGAGCATTTTGAGCCTCTCAAAACATAACAGTAGTGGATGACAATGCATTTTGATTTCAAAAAGAATCCGTGGGCTGGGTGCAGGGCTAGCGCCTGCAATGCCAGCACTTTGGGAGGCCAAGACAGGTGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTTGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCCGGGCATGGTGGCATACGCCTGTAATCCCAGCTACTCGGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTTGCCGACAGAGCGAGACAATGTCTCAAAAAAATAAAATAAAAAAGAATCCATGGGTCCATAGAAATACTGAAAATAACAATTGGGGTCAGGGAGAAGGGGAAGCTCTACAGAGGAATGCCAACTAATAAATGTAAAGGCCATGAATTAAAAGGCTAGACTTAGAATGTCACCATTTTATACCCAGTACATTGATTATTGTTCCAGGCAAGGACTATCAATAAATGCTGAGGTTAATTGGTAGAATTAACATGCTACAGATTACTTATCAATTGCAAAGGAAAAGGTACCTTTTTGATGGCCGGAATCTGGCAGCCATCATCATCACCACGTGCTCCAACTTAATATCACCAAAAGTGGGACAGACTTGCACCTCCTGAGGTAATTCCCTGAGAAGGACACACCACCACTGATGTGGTATTCTTGCCAAAACCATTAAGCCTGAATCTAATCTTGAGGAAACAGACTAATCCAAACTGAAGGACAGTCTATAAAATAACCCAAACCCTTGAAAAATGGCAGCATTAAAATAAGACAGAAAAGACGGGAATTTGTCTCAGATTAAAAGAGATGGAAGAGACCTGAGGACTAAATACTACATGTCATGCGCAATTGGATCCTGGACCCCAAAACAAAAGGCTATAAAAGACATTACTGGGACAATTGGGGGAATTTGAATATAGACTAATTATTGGATAAGAACATCATATCTGTTAAGTTTCTTGAGTGTGATCATTGTTTTATGGTTATTTAGGAGAATGCTTTTGTTCTTAGGAGATACCTGTGAAGCGTTTAGAGGCAGCATGATGTCTGCAACTTACTTGACTGGTTTCAAAAAAAAAATCATGTGATTGTATGTAGAGAGAGGAAATTGTGGCAAAATATTAATTGGCACATAATTGTCATAATTGTCTTTTGGTGACAAACATGAATCATACTTAGATCATATTACTTAATTAAGGTTTGACAAAATGATGACATGCTATTAGTCTTCATTTAGTAGCTCCAGTCTTTATACCTTAATGCAGAATAAATATTTGATTCTTTCCCTTTATTTACCTGAATTTTTATTCTTGCTTGTGGTCAAGCTGTCCCTTCTTTGCCCAGTGGGAACCTCTTCAGGTTGGCCCTTGAGTGCTTTTAACGTGACCCCGGTAGTCTTAGCTAGCTAGCATCCTCACTCTCTGGTACAAGGTGTGCCTGGTTCCTCTTGTGTGTTTCCTGTCCCAGATCTGCAATCAGCCATTTCTCTCAGGAGCTCTTGTTCCTTTTAGCAGTAAATCAAACAGACCTGTTTTAAAAATCCCTTTCAGGTTGCTGTATTGTGTCAAGTTTCACAGGAAGGAATATGCCTGTGTATTGGCTATTTACTGTCTTTAATGGTGTGGAACTTTTTCATGTGATTCATAATTTCTATCTGAGTTCACCTTCCTGGGGAGTTTTACCTCCTAGGTGCCTGCTCTGAACCACCCAAAAGGATGTTGCCTCTGTGTGGATCCCACAGGCTTCTCATGCCCCAAACCCCTTTTGACTGGGGACTAGTTAGTGGGGAGAAGGTGATTAAAGGGACAACTTGGTTTCCATCCCATGTACTTCGGTATCATTGATTCTTTTATGAGAATGTATTTCCATATTGATTATAGAATTATAAGACAAGGAACCTACAAGCCACAGGTTGGAGGGTGAAAACATGAGAATGCCATTGACCTGTCAAAGCAGGAATGATTATTTTGTCTTTCTTTGCTTTTCCAGGATCTGTACCCAGCTCTGAAAGGTGTAAACACAGTTTTCCACTGTGCGTCACCCCCACCATCCAGTAACAACAAGGAGCTCTTTTATAGAGTGAATTACATTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGGTAAGGGGAAGGCTGGAGTGAGTGCTGTCAGGAGCACGTGATGGCCCTTTCTAAGGGTGCAAGGCCGTAGTTCTTGCAGTCTCCCTGGGCCTAGGCGGGGTTGCTTCTTAAAGTGTTGGGAAGATCTTAGAAATGAAGCCCTTGGAGTCACTGGAGATGGTGAAGGTCTGCTTGCCAAGGCTGATTTGAGATGTAATATTCTAACTGCACACAAATAGAACATCTGAGGACCTCAAGCCTATTGGCCTTCAGTTAAAGAGCTGCAGAACTTAGACATTGCTTATATTTTTATTGTGATAAAATATATATCACATACAATTTACCATCCTAACCATTTTTAAGTGCGGAGTTCAGTGGCATTAAGTACACTCACAATGTTGTATAGCCATTACCACCATCCATCTCTAAACCTTTTTCTTCTTCCCTAATAAAAACTCTATACCCATTAAACAGCAACTCCTCAATCGCCCTTCCCTACCCAGCCCCTGGCAACTACCCTTCTACTTTCTGTCTCTATGGGTTTGACAACTATAGGGACCTCACAGAAGTGGACTCATGTAGTATTTCTCCTTTTGTGTCTGGCTTTTCACCGAGCATGATGTCCTCAGGGGTCATCCATGTTGTAGCATGTGTCGGAATGTCCTTCCTTTTTCAGGCAGAACAATATTTCATTGTATGGATGGGCCACATTTTGTTTATTCATTCAGCCATGGATGGACATCTGTGTTGTCTTCACCTTTTGGCAATTGTAAACAATAGTGTTATGAACACAAGTGTACAAATATCTGTTCAAGTCCCTGTTTTCAATTCTTTCAGGCATCTACCCAGAAGTAGGGTTGCTAGATCATATACTAGTTCTACGTTTAACCTTTTGAGGAGCCACCACATTGTTTTCCAGACCTTGCTTATATTTTAAAAGAAAAGCAAACTGTGTTTACCCTTAGCCAATAGAAACGTGTTATAACTCAGGCCTGAGGGGATACGAATTTTCTGCCCATCATAGCTTGCTGCATCGTTACCAATCCTGGTTCTTAGAATTGTCTTTAGAGGACTCCAGCCACTGGCTAAAACGGCTCCCTGTCAGCTCAGTATCCTGACCCTCACAGGGATGCATGCCACAGGTACTGCATAAATTAAGAGAAAAACTTGAAGCAAGCCAGGGGGTTCCTCTCCCAACAACCTGTCCTGGCACTGTTGGCTGGTCCGCAGCATCCTCAGCCGGCCCAGCAGGGTTGGAGCTCTTCTGGGCTTGGGCCCTGGAAAAGATCACTTATAACTGACCCCTAGCAGTTGACAAGATGCTTTGCCCTGCTGAAGTTTTCACCTAATTAGCTCCTCGTTGGGTGACCAGGGGCTAAACGATGTCTCTTTGCTAGTAAATGGGAGAGGTGGGGTCAAAGCAGATTCTCCAAGTCCCAGACTCTGCACTCAGCCATGCTGATGTAACTGGAGCCCTGGGAAGGGCCCTGCTGCTCTTTGTTAAATGGAAGGTTGGGGGCATACAACAAAGATTTGTGCCCCAGGTGTGGCGGCTCACACATGTAATCCCAGCGCTTTGGGAGGCCAAGGCAGGAAGATCCCTTGAGCCAAGGAGTTCAAGACCAGCCTGAGCAACATAGCAATACCCCACCTCTACACGAATTTTTAAAAGCCAGGTGTGGTGGTATGCACCTGTAGCCTCAACTGTTTCGGGACGCTGAGGCAGGAGGATCGCTTGAGCCCAGGATTTTCAGGCTGCAGTGAGCTGTGATCCCAACACTACACCCCAGCCTAGGCAACAGAGCAAGACCTTGTCTCTTAAAAAAAAAATTAAAAAAACAACAAGATTTGAGAATAAAACAGCACCTCTCCACTCACCACAGCATTTAAGAAACAACATTACT
|
TGAGCATTTTGAGCCTCTCAAAACATAACAGTAGTGGATGACAATGCATTTTGATTTCAAAAAGAATCCGTGGGCTGGGTGCAGGGCTAGCGCCTGCAATGCCAGCACTTTGGGAGGCCAAGACAGGTGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTTGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCCGGGCATGGTGGCATACGCCTGTAATCCCAGCTACTCGGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTTGCCGACAGAGCGAGACAATGTCTCAAAAAAATAAAATAAAAAAGAATCCATGGGTCCATAGAAATACTGAAAATAACAATTGGGGTCAGGGAGAAGGGGAAGCTCTACAGAGGAATGCCAACTAATAAATGTAAAGGCCATGAATTAAAAGGCTAGACTTAGAATGTCACCATTTTATACCCAGTACATTGATTATTGTTCCAGGCAAGGACTATCAATAAATGCTGAGGTTAATTGGTAGAATTAACATGCTACAGATTACTTATCAATTGCAAAGGAAAAGGTACCTTTTTGATGGCCGGAATCTGGCAGCCATCATCATCACCACGTGCTCCAACTTAATATCACCAAAAGTGGGACAGACTTGCACCTCCTGAGGTAATTCCCTGAGAAGGACACACCACCACTGATGTGGTATTCTTGCCAAAACCATTAAGCCTGAATCTAATCTTGAGGAAACAGACTAATCCAAACTGAAGGACAGTCTATAAAATAACCCAAACCCTTGAAAAATGGCAGCATTAAAATAAGACAGAAAAGACGGGAATTTGTCTCAGATTAAAAGAGATGGAAGAGACCTGAGGACTAAATACTACATGTCATGCGCAATTGGATCCTGGACCCCAAAACAAAAGGCTATAAAAGACATTACTGGGACAATTGGGGGAATTTGAATATAGACTAATTATTGGATAAGAACATCATATCTGTTAAGTTTCTTGAGTGTGATCATTGTTTTATGGTTATTTAGGAGAATGCTTTTGTTCTTAGGAGATACCTGTGAAGCGTTTAGAGGCAGCATGATGTCTGCAACTTACTTGACTGGTTTCAAAAAAAAAATCATGTGATTGTATGTAGAGAGAGGAAATTGTGGCAAAATATTAATTGGCACATAATTGTCATAATTGTCTTTTGGTGACAAACATGAATCATACTTAGATCATATTACTTAATTAAGGTTTGACAAAATGATGACATGCTATTAGTCTTCATTTAGTAGCTCCAGTCTTTATACCTTAATGCAGAATAAATATTTGATTCTTTCCCTTTATTTACCTGAATTTTTATTCTTGCTTGTGGTCAAGCTGTCCCTTCTTTGCCCAGTGGGAACCTCTTCAGGTTGGCCCTTGAGTGCTTTTAACGTGACCCCGGTAGTCTTAGCTAGCTAGCATCCTCACTCTCTGGTACAAGGTGTGCCTGGTTCCTCTTGTGTGTTTCCTGTCCCAGATCTGCAATCAGCCATTTCTCTCAGGAGCTCTTGTTCCTTTTAGCAGTAAATCAAACAGACCTGTTTTAAAAATCCCTTTCAGGTTGCTGTATTGTGTCAAGTTTCACAGGAAGGAATATGCCTGTGTATTGGCTATTTACTGTCTTTAATGGTGTGGAACTTTTTCATGTGATTCATAATTTCTATCTGAGTTCACCTTCCTGGGGAGTTTTACCTCCTAGGTGCCTGCTCTGAACCACCCAAAAGGATGTTGCCTCTGTGTGGATCCCACAGGCTTCTCATGCCCCAAACCCCTTTTGACTGGGGACTAGTTAGTGGGGAGAAGGTGATTAAAGGGACAACTTGGTTTCCATCCCATGTACTTCGGTATCATTGATTCTTTTATGAGAATGTATTTCCATATTGATTATAGAATTATAAGACAAGGAACCTACAAGCCACAGGTTGGAGGGTGAAAACATGAGAATGCCATTGACCTGTCAAAGCAGGAATGATTATTTTGTCTTTTCTTTGCTTTTCCAGGATCTGTACCCAGCTCTGAAAGGTGTAAACACAGTTTTCCACTGTGCGTCACCCCCACCATCCAGTAACAACAAGGAGCTCTTTTATAGAGTGAATTACATTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGGTAAGGGGAAGGCTGGAGTGAGTGCTGTCAGGAGCACGTGATGGCCCTTTCTAAGGGTGCAAGGCCGTAGTTCTTGCAGTCTCCCTGGGCCTAGGCGGGGTTGCTTCTTAAAGTGTTGGGAAGATCTTAGAAATGAAGCCCTTGGAGTCACTGGAGATGGTGAAGGTCTGCTTGCCAAGGCTGATTTGAGATGTAATATTCTAACTGCACACAAATAGAACATCTGAGGACCTCAAGCCTATTGGCCTTCAGTTAAAGAGCTGCAGAACTTAGACATTGCTTATATTTTTATTGTGATAAAATATATATCACATACAATTTACCATCCTAACCATTTTTAAGTGCGGAGTTCAGTGGCATTAAGTACACTCACAATGTTGTATAGCCATTACCACCATCCATCTCTAAACCTTTTTCTTCTTCCCTAATAAAAACTCTATACCCATTAAACAGCAACTCCTCAATCGCCCTTCCCTACCCAGCCCCTGGCAACTACCCTTCTACTTTCTGTCTCTATGGGTTTGACAACTATAGGGACCTCACAGAAGTGGACTCATGTAGTATTTCTCCTTTTGTGTCTGGCTTTTCACCGAGCATGATGTCCTCAGGGGTCATCCATGTTGTAGCATGTGTCGGAATGTCCTTCCTTTTTCAGGCAGAACAATATTTCATTGTATGGATGGGCCACATTTTGTTTATTCATTCAGCCATGGATGGACATCTGTGTTGTCTTCACCTTTTGGCAATTGTAAACAATAGTGTTATGAACACAAGTGTACAAATATCTGTTCAAGTCCCTGTTTTCAATTCTTTCAGGCATCTACCCAGAAGTAGGGTTGCTAGATCATATACTAGTTCTACGTTTAACCTTTTGAGGAGCCACCACATTGTTTTCCAGACCTTGCTTATATTTTAAAAGAAAAGCAAACTGTGTTTACCCTTAGCCAATAGAAACGTGTTATAACTCAGGCCTGAGGGGATACGAATTTTCTGCCCATCATAGCTTGCTGCATCGTTACCAATCCTGGTTCTTAGAATTGTCTTTAGAGGACTCCAGCCACTGGCTAAAACGGCTCCCTGTCAGCTCAGTATCCTGACCCTCACAGGGATGCATGCCACAGGTACTGCATAAATTAAGAGAAAAACTTGAAGCAAGCCAGGGGGTTCCTCTCCCAACAACCTGTCCTGGCACTGTTGGCTGGTCCGCAGCATCCTCAGCCGGCCCAGCAGGGTTGGAGCTCTTCTGGGCTTGGGCCCTGGAAAAGATCACTTATAACTGACCCCTAGCAGTTGACAAGATGCTTTGCCCTGCTGAAGTTTTCACCTAATTAGCTCCTCGTTGGGTGACCAGGGGCTAAACGATGTCTCTTTGCTAGTAAATGGGAGAGGTGGGGTCAAAGCAGATTCTCCAAGTCCCAGACTCTGCACTCAGCCATGCTGATGTAACTGGAGCCCTGGGAAGGGCCCTGCTGCTCTTTGTTAAATGGAAGGTTGGGGGCATACAACAAAGATTTGTGCCCCAGGTGTGGCGGCTCACACATGTAATCCCAGCGCTTTGGGAGGCCAAGGCAGGAAGATCCCTTGAGCCAAGGAGTTCAAGACCAGCCTGAGCAACATAGCAATACCCCACCTCTACACGAATTTTTAAAAGCCAGGTGTGGTGGTATGCACCTGTAGCCTCAACTGTTTCGGGACGCTGAGGCAGGAGGATCGCTTGAGCCCAGGATTTTCAGGCTGCAGTGAGCTGTGATCCCAACACTACACCCCAGCCTAGGCAACAGAGCAAGACCTTGTCTCTTAAAAAAAAAATTAAAAAAACAACAAGATTTGAGAATAAAACAGCACCTCTCCACTCACCACAGCATTTAAGAAACAACATTAC
|
benign
| 340,042 |
Gene BGN (biglycan) variant at chromosome X, position 153504689—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Meester-Loeys_syndrome']
|
CGGCCTGAGGCTGGCAGGCCCTGGGCTGCAACTGTGGGATCTCAAGGCTCAAAAGAATGAGGGAGGCTCGGTGCTGCCCCAGCAGGGGCCTCCTGGTGACCCCAGGGGTCAGCATGAAGTCCAGCTCCACATGAGGGGGAAGCTGAGCTAAGCCTTGGGCTCCGACTCCCACTTTGCAGTGTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAAAGCGGCAGCCCCGGGCAGCCAGCCCAGCCCCCAGGGCAACTGGGGAAGCATCGGGCAGGGCGGGGCTGCTCATAGGGTGCTGGCCTGGGGGCAGAGCCCCCACCTCCCCACGGCCTCCTTAGACCCCTGCAACCAGCAGCTGGGCTTAGGGGGCTCACCTCGCTCTGCTGGAGCCCCAGACAGCCCCTCCCCAGCTAGTACTGGCCCTAAGTGAGGGTCTCCTGGGCGTGCGACTGCTTCAGGTCTGCCAGAGGCCCCTGCTGCCCAGCTGGGCTCCCCATCTCCAGATGCACCGAGGGCCACCCCAGGCTGGGTGGCAAGCAGGGCAGGCATGTTTATTCCCACTTAACAGATGGGGAAGGTGAGGCTGGGATGAGACCTGGGCCTTTGCTGGAGAGTCAGGGTGGATGAAGTGGTGAGAGAGGCAGGGCTCCAGCCTCTTCCTGTAGGGCACATTCCCGGCTGCCTCTGGACGGGAGACCGTGTCTGATGAGGAGGGAGGAGGCAAGCAGAGGTGGGTGCTGGGGGCAGGCTCGGGCAGGGCTGCTTCGCCTCCACTCCCACTCGCCGCCTCGGCCTGGGGGGCCTCAGGCAAGCCTGACCCTGCCCTGCCACCCTGGCGGCAGCCTGCTCCCCTGGGGGGCCTCTCTGGGCTGCCGAGGCTGTGGGCAGGGAGGAAGGGTGCGAGCAGATCTGGGAGCTCCAGGGCTGTTTGGGCCAAGGCGGTGTGGGCGGGGGGCTGGGGCGGGTGGTCCAGAGGAGGAAGCCAAGGCCCAGGGGCAGTGTTGGGGGCGCCACGGCCTCCACCTCGGGGGCCTCCACTCAGTGCTGCCTCAGCCAACTTTACCCACGGCCTCCAAGGATACCCCCTCTTTCTCCGCCCTGCCTCCCTACCTTGGCCTTAGAGGGTCTCTGAGAAACGTGGGCAGGGTGGAGGGAGGAAGCAACTCAGAGTCGCCGCACTCAACTAACTTCATCCACGCTGCCCTGAGCCCAGAACTCAAAGGAAGGATCGGCCCGGGTAGGAGGCCACAGTGATGTCCCCAAAAGTGAATTCTTCAAAGCCCTTGAGGGCCAATGGCTAGGATTCCTCCTCCACCTCCTCCACGCAGCCTCATGGACGCCCCCGCCCTAAAGCAGGCTTCTGGCAGACTCAGAGGCGTGGGGGCCTGCAGACTTGCTGATGAGGAGACATTTCATCGCCTGATTAAGCCAAGTCCTGTCCGGGATGGGGAGGGGGGTAGTGGAAGCAGTGAAGGGAGTGGAGTGGAGGGGGCACCCTCCTTGCCAGCAGCATCCACTCCCTTCCTGCCTGGAGCCCTCTGCCCACACTCCGCCCTCTCCGCCTCCCGCTCCAGGGTCTGGCCGTCCCTGGTGAGGGATGGGAACGCAGTGCCACCACACACGCGGAACACCAGCCCCTGGCATGGAGAAGACAGGTGGGTGCTGGTGCTGATGATCCCCTCGCCTCTTCCCCCAGGTCCATCCGCCATGTGGCCCCTGTGGCGCCTCGTGTCTCTGCTGGCCCTGAGCCAGGCCCTGCCCTTTGAGCAGAGAGGCTTCTGGGACTTCACCCTGGACGATGGGCCATTCATGATGAACGATGAGGAAGCTTCGGGCGCTGACACCTCGGGCGTCCTGGACCCGGACTCTGTCACACCCACCTACAGCGCCATGTGTCCTTTCGGCTGCCACTGCCACCTGCGGGTGGTTCAGTGCTCCGACCTGGGTTTGTCCCTGAGTGATGGGGAGCGGGGCATGCAGGGAGGCTCAGGTGCAGCCTGAGAGCCCCTTCTGAAGGGGACACATGCTGGTCCTGTGGGACGGTGGCGAGCATGATGTAAGTGTAGGAGGGGTCCAGCCGTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGATGACTTCAAGGGTCTCCAGCACCTCTACGTAAGGAGCTGGGAGGAACCAGCAGGCCTACAGCAGAGGGCAGGGGTCCGGGTGGGTGCATGTGCGTGGACGTGTGGGGTATGAGAGGGGTTCGGGGACTCGTGGGGCTTCAGGGTGAAGCCTGGAGCCAGCCGTGATGGGAGCTCCCGGGTTTGCGGCTCACTCATGTGGGTTTGAGCAACCACAGCTGCAGGACCGGATCGCTCAGTTCGGCTCCCTTCGTGGCTGAAAACGTTTCATCACGTCCACTCCTCCCAGCAACAGAGGAGAACGGATTTCATTGTAGCCAGTGTGCGTGTGAGGAAACTGAGGCTTGGAGCGGCAAGGCAGTGGTGGCACTGCTGGGGCTCAGGACCGGGCCTGGGTGCTGCCTCCTGCCCTGCACTCTGCTCACAAGCATGGACTGAACCTCCTCGAGGCCCAGTGGGCTGGGGAGGCACAGGAAGGCAGGAGAGAGGGGCGGGTGGGGTGGGGAGTCTGTGCCTTCACCTCCTCCGCCCACCCTGCTTCAGGCCCTCGTCCTGGTGAACAACAAGATCTCCAAGATCCATGAGAAGGCCTTCAGCCCACTGCGGAAGCTGCAGAAGCTCTACATCTCCAAGAACCACCTGGTGGAGATCCCGCCCAACCTACCCAGCTCCCTGGTGGAGCTCCGCATCCACGACAACCGCATCCGCAAGGTGCCCAAGGGAGTGTTCAGCGGGCTCCGGAACATGAACTGCATCGGTGAGCTGAGGGCCTCCCAGAACATTCCAGAGCCTTGTCTCGAGGCATGGGGAAGGGAGACCAAGGGATACCTTTAGAGGCTCAGTTCAAGAAAGAGTATGGTGAGAACGGTCAAAAGAAAATCCATGGATTTCTTGGCAAATCCTCCATGCAGGCGATCACCACGGCTAAAGAGAAGACTGGGCCAGAGGGGCCGGGTGGCTTCCGGGAGCCCCATCTTCATCTCTGGCACTCCTCCCTTTCCTCTTGCTGCCCCTGGAGCTAGCAGTCCTGGGGCTAGCAGTCCTGAACAGCTAGGAGTTTGCAATTAGCCCGGTAAATTAGCAGAACTGCTTTCAGGAGACGGGAGCAGCCGGCAGGTAGCAGGGCCCACCACACTGGCCCGGAAGTGACAGGACCCAGGGCTGTGCAGGGACCACCAGGCTCCCGGGCTAATGAGGTCTCTCCCCTAGAGATGGGCGGGAACCCACTGGAGAACAGTGGCTTTGAACCTGGAGCCTTCGATGGCCTGAAGCTCAACTACCTGCGCATCTCAGAGGCCAAGCTGACTGGCATCCCCAAAGGTAGGAAGCCCACTCTTCCTGCACGCCTGCCTGCCTCACCCCCAACAGCACAGATGGCCAGGGTGGGGGCTCTGGATGGGCCCGATCTACTCAGGGA
|
CGGCCTGAGGCTGGCAGGCCCTGGGCTGCAACTGTGGGATCTCAAGGCTCAAAAGAATGAGGGAGGCTCGGTGCTGCCCCAGCAGGGGCCTCCTGGTGACCCCAGGGGTCAGCATGAAGTCCAGCTCCACATGAGGGGGAAGCTGAGCTAAGCCTTGGGCTCCGACTCCCACTTTGCAGTGTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTCTAGGGGGGATGCCAATGCAGGGGGGACGCGTGCCAGCAGATGCTCCCTGGAGCACCCGAGGAGCTGCATGGGGGCGACAGGACAGGCCTCCATCCCAACCCTCTCCTGGGCTTGTGCTCAGACCCAACCTGGCCCTGAAGTGGCCTCAGGCCCCCGGCCCGCTGGTAGCAAGGACTCCAAAGCGGCAGCCCCGGGCAGCCAGCCCAGCCCCCAGGGCAACTGGGGAAGCATCGGGCAGGGCGGGGCTGCTCATAGGGTGCTGGCCTGGGGGCAGAGCCCCCACCTCCCCACGGCCTCCTTAGACCCCTGCAACCAGCAGCTGGGCTTAGGGGGCTCACCTCGCTCTGCTGGAGCCCCAGACAGCCCCTCCCCAGCTAGTACTGGCCCTAAGTGAGGGTCTCCTGGGCGTGCGACTGCTTCAGGTCTGCCAGAGGCCCCTGCTGCCCAGCTGGGCTCCCCATCTCCAGATGCACCGAGGGCCACCCCAGGCTGGGTGGCAAGCAGGGCAGGCATGTTTATTCCCACTTAACAGATGGGGAAGGTGAGGCTGGGATGAGACCTGGGCCTTTGCTGGAGAGTCAGGGTGGATGAAGTGGTGAGAGAGGCAGGGCTCCAGCCTCTTCCTGTAGGGCACATTCCCGGCTGCCTCTGGACGGGAGACCGTGTCTGATGAGGAGGGAGGAGGCAAGCAGAGGTGGGTGCTGGGGGCAGGCTCGGGCAGGGCTGCTTCGCCTCCACTCCCACTCGCCGCCTCGGCCTGGGGGGCCTCAGGCAAGCCTGACCCTGCCCTGCCACCCTGGCGGCAGCCTGCTCCCCTGGGGGGCCTCTCTGGGCTGCCGAGGCTGTGGGCAGGGAGGAAGGGTGCGAGCAGATCTGGGAGCTCCAGGGCTGTTTGGGCCAAGGCGGTGTGGGCGGGGGGCTGGGGCGGGTGGTCCAGAGGAGGAAGCCAAGGCCCAGGGGCAGTGTTGGGGGCGCCACGGCCTCCACCTCGGGGGCCTCCACTCAGTGCTGCCTCAGCCAACTTTACCCACGGCCTCCAAGGATACCCCCTCTTTCTCCGCCCTGCCTCCCTACCTTGGCCTTAGAGGGTCTCTGAGAAACGTGGGCAGGGTGGAGGGAGGAAGCAACTCAGAGTCGCCGCACTCAACTAACTTCATCCACGCTGCCCTGAGCCCAGAACTCAAAGGAAGGATCGGCCCGGGTAGGAGGCCACAGTGATGTCCCCAAAAGTGAATTCTTCAAAGCCCTTGAGGGCCAATGGCTAGGATTCCTCCTCCACCTCCTCCACGCAGCCTCATGGACGCCCCCGCCCTAAAGCAGGCTTCTGGCAGACTCAGAGGCGTGGGGGCCTGCAGACTTGCTGATGAGGAGACATTTCATCGCCTGATTAAGCCAAGTCCTGTCCGGGATGGGGAGGGGGGTAGTGGAAGCAGTGAAGGGAGTGGAGTGGAGGGGGCACCCTCCTTGCCAGCAGCATCCACTCCCTTCCTGCCTGGAGCCCTCTGCCCACACTCCGCCCTCTCCGCCTCCCGCTCCAGGGTCTGGCCGTCCCTGGTGAGGGATGGGAACGCAGTGCCACCACACACGCGGAACACCAGCCCCTGGCATGGAGAAGACAGGTGGGTGCTGGTGCTGATGATCCCCTCGCCTCTTCCCCCAGGTCCATCCGCCATGTGGCCCCTGTGGCGCCTCGTGTCTCTGCTGGCCCTGAGCCAGGCCCTGCCCTTTGAAAGCAGAGAGGCTTCTGGGACTTCACCCTGGACGATGGGCCATTCATGATGAACGATGAGGAAGCTTCGGGCGCTGACACCTCGGGCGTCCTGGACCCGGACTCTGTCACACCCACCTACAGCGCCATGTGTCCTTTCGGCTGCCACTGCCACCTGCGGGTGGTTCAGTGCTCCGACCTGGGTTTGTCCCTGAGTGATGGGGAGCGGGGCATGCAGGGAGGCTCAGGTGCAGCCTGAGAGCCCCTTCTGAAGGGGACACATGCTGGTCCTGTGGGACGGTGGCGAGCATGATGTAAGTGTAGGAGGGGTCCAGCCGTCTGGCTGTGAGCTGTGCAGTTTGTGCCCACTTGTGGTGGCATCCCCGTGTGCCCGTCAGTGTCCCTGTGTGTGTGTCCCCGGTCCTCCCTACCAGTGGGGCTAGTCGGCTGGATGGCTCCAAGTTCATGCTGGTGATGGTGGTGGGGCCCCTAGGTCTCGAGTTCATGCTGGTGGTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGATGGGGGTGGGGCCCCTAGGTCTGAAGTCTGTGCCCAAAGAGATCTCCCCTGACACCACGCTGCTGGACCTGCAGAACAACGACATCTCCGAGCTCCGCAAGGATGACTTCAAGGGTCTCCAGCACCTCTACGTAAGGAGCTGGGAGGAACCAGCAGGCCTACAGCAGAGGGCAGGGGTCCGGGTGGGTGCATGTGCGTGGACGTGTGGGGTATGAGAGGGGTTCGGGGACTCGTGGGGCTTCAGGGTGAAGCCTGGAGCCAGCCGTGATGGGAGCTCCCGGGTTTGCGGCTCACTCATGTGGGTTTGAGCAACCACAGCTGCAGGACCGGATCGCTCAGTTCGGCTCCCTTCGTGGCTGAAAACGTTTCATCACGTCCACTCCTCCCAGCAACAGAGGAGAACGGATTTCATTGTAGCCAGTGTGCGTGTGAGGAAACTGAGGCTTGGAGCGGCAAGGCAGTGGTGGCACTGCTGGGGCTCAGGACCGGGCCTGGGTGCTGCCTCCTGCCCTGCACTCTGCTCACAAGCATGGACTGAACCTCCTCGAGGCCCAGTGGGCTGGGGAGGCACAGGAAGGCAGGAGAGAGGGGCGGGTGGGGTGGGGAGTCTGTGCCTTCACCTCCTCCGCCCACCCTGCTTCAGGCCCTCGTCCTGGTGAACAACAAGATCTCCAAGATCCATGAGAAGGCCTTCAGCCCACTGCGGAAGCTGCAGAAGCTCTACATCTCCAAGAACCACCTGGTGGAGATCCCGCCCAACCTACCCAGCTCCCTGGTGGAGCTCCGCATCCACGACAACCGCATCCGCAAGGTGCCCAAGGGAGTGTTCAGCGGGCTCCGGAACATGAACTGCATCGGTGAGCTGAGGGCCTCCCAGAACATTCCAGAGCCTTGTCTCGAGGCATGGGGAAGGGAGACCAAGGGATACCTTTAGAGGCTCAGTTCAAGAAAGAGTATGGTGAGAACGGTCAAAAGAAAATCCATGGATTTCTTGGCAAATCCTCCATGCAGGCGATCACCACGGCTAAAGAGAAGACTGGGCCAGAGGGGCCGGGTGGCTTCCGGGAGCCCCATCTTCATCTCTGGCACTCCTCCCTTTCCTCTTGCTGCCCCTGGAGCTAGCAGTCCTGGGGCTAGCAGTCCTGAACAGCTAGGAGTTTGCAATTAGCCCGGTAAATTAGCAGAACTGCTTTCAGGAGACGGGAGCAGCCGGCAGGTAGCAGGGCCCACCACACTGGCCCGGAAGTGACAGGACCCAGGGCTGTGCAGGGACCACCAGGCTCCCGGGCTAATGAGGTCTCTCCCCTAGAGATGGGCGGGAACCCACTGGAGAACAGTGGCTTTGAACCTGGAGCCTTCGATGGCCTGAAGCTCAACTACCTGCGCATCTCAGAGGCCAAGCTGACTGGCATCCCCAAAGGTAGGAAGCCCACTCTTCCTGCACGCCTGCCTGCCTCACCCCCAACAGCACAGATGGCCAGGGTGGGGGCTCTGGATGGGCCCGATCTACTCAGG
|
pathogenic
| 340,072 |
Is chromosome X, position 153688662, gene SLC6A8 (solute carrier family 6 member 8) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Creatine_transporter_deficiency']
|
TCTATGAGTCACTTCTCTAATGCCCCTGTCTCCAGACCAGCTTCAGTCAAAGGCTGGGCCAGAGAAGACCCTAGTGAGAAACTTCTGATGAGCAGTGTGACCTTGCCACCTCAGGGGTACCCACCCACCACCCCTGGTCTAAGCACAGGTGACACCGCCTGTCTCCCCCAACCACACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCACCCCACCCCCAGGCTACTCTTAGCCCTAGAAAATTCTAAACAAGCTGCTCAGCTGGCGGCGGAGAGGCAGCCCAACAAGCTGGCTCTTGCTAGGGAGGCCTGGGGGGTCCTGGGGAGAGGAACACGGGGTGGGTGGGGGGCGGGCAGCCAGGACCTCAGGCCTGAGGCCTTTGGGGAAGGGTCTGTGCACCTGCCAGGCACCAGGGGGCAGCCTTGCCTTGTTCCCGCTCCAGTCCCCTCAAGTCCGAAGCCCCTACCCACTCTCACGCCAGGCAGGGGTGGGGGCCGCCGGGGTCATTTACCCGGGCCCCTTCTCTGCCTTGATGACAAAGTCGAGGCTTGCTCATCAGCCAGGCAGGCTCCCCTCTGCCCACTGTGGAGACACAGAGGCCTGTCACCTGAAGAGCTGGTCCCGGCCTCCAGCTTCCAGGGTAGCCGGGAAGCTGTAGCCCCCAGTGGGCAGCGGTGGAGAGAGCTCAAGGAAGGAGGGAGCACCGGGAGGAGACGGCTGCAGCCTGCCAGGAGCGGGGAGAAAGGGAGAGAAGGGGAGGCGGAGGGCTGAGGGGGCCCGGGGGACGTCTTCCCAGGGCTGGGAGGGGCCGGCCGGGAAGCCTGGGCTGCACTAGGAGCCGGCGACCCTGGGGCGAGGGGCGGCCCGGAGCCCTGCGGGAGGAGCTGGCGGCCGCCCCAGGTAGCAACCATCCTGCCTCCCGCTGGAGCGGCGTCTCCTCCCCGGGAGGAGGGCAGGGAGGAGGTGGGCGGAGTGTGACGAGGAGGGCGGGAGGGAGGGATGCGGGAGGGGGAGGGGGAGGGGGGCCGGCCGGCCGTGGGGGTGGGGCGATAGTGACATCACCCCGGAGTCGGTTTTTAAGCGGCGGCCGGCCGGGGACGGGGAAGAGAGGGATAGTCGGAGCGAGGTGGCGAGTCGCTGAGCCCGCCGCGGCCCCGAGAGCGGCTGCAGCCGCCGCCGCCGGGAAGGAGAGGGCGAGGCGCGCCCGAGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGCCACCACCGCCACCGGAGTCGCGGGCCAGCCGGGCAGCCTCCGCGGGCCCCGGCCGGGGCGGGGGGCGCGGGCCACAGGCCCCTGCTCCGGCCGCCGCTTGCAGACCGCGGGCGCCGATGTCGCCCGCGCCCCGCTAGGCTGAGCCTCGGGTCGGGCGAGGAGCCGCCGCAGCCGCCGCCGCCCGAGCCGCGGGCAGGAGCCTCGGGAGCCGCCGCCGCCGCCGCCGCCGCCCGGCCGGGCCCCGCCGCCGCCCGCGCGCCCCCGGGCCCCCGACACACATGAGATTCTTCAGGCTCACTTTCAAGTGCTTCGTGGACTGCTTCTGACTGCGCCGCCCGCGCCCCGCACCCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGACCCCGGCCCGGCCGTGCGGCCCGCCGAGGCCATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGACTTCATCATGTCGTGCGTGGGCTTCGCCGTGGGCTTGGGCAACGTGTGGCGCTTCCCCTACCTGTGCTACAAGAACGGCGGAGGTGAGTTCCCCCGCCCGCCGCGGCCTCCTCCCCCAGCAGGCCGCCGGCCCCCGCCCGACCCCCGGAGCCGCCGCGGAGGGGTGAAGTCCGGGCAACGGGTGGCCCCCGGGCACGCGGGGGTCGGGGCCGCCCCTCGTCCGCCGCTGCCGCTCGGTGGCCGGGCCGGGCGCCTCCACCCCCCTCGCAGTCATGTGCCTGGCATGGTGGGGGGAGGGGGCCGGCGATGCCCGCGAGGCTGCCCCCCAGACTCCCGGGCTGGGAGGAGCGATTGGCCGCCGAGGTGGGAAAGCAGGCCTGCGCCTTGGGGTCTCCGCGAGGTAAGGAGCCCTGGCTGCCCCCACGGGTCGGGCACACAAGCGGCACATTGTGTGGGCCCCCCACGTGTGCACACACACGAACACACACACACACAATGGGCCACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAG
|
TCTATGAGTCACTTCTCTAATGCCCCTGTCTCCAGACCAGCTTCAGTCAAAGGCTGGGCCAGAGAAGACCCTAGTGAGAAACTTCTGATGAGCAGTGTGACCTTGCCACCTCAGGGGTACCCACCCACCACCCCTGGTCTAAGCACAGGTGACACCGCCTGTCTCCCCCAACCACACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCACCCCACCCCCAGGCTACTCTTAGCCCTAGAAAATTCTAAACAAGCTGCTCAGCTGGCGGCGGAGAGGCAGCCCAACAAGCTGGCTCTTGCTAGGGAGGCCTGGGGGGTCCTGGGGAGAGGAACACGGGGTGGGTGGGGGGCGGGCAGCCAGGACCTCAGGCCTGAGGCCTTTGGGGAAGGGTCTGTGCACCTGCCAGGCACCAGGGGGCAGCCTTGCCTTGTTCCCGCTCCAGTCCCCTCAAGTCCGAAGCCCCTACCCACTCTCACGCCAGGCAGGGGTGGGGGCCGCCGGGGTCATTTACCCGGGCCCCTTCTCTGCCTTGATGACAAAGTCGAGGCTTGCTCATCAGCCAGGCAGGCTCCCCTCTGCCCACTGTGGAGACACAGAGGCCTGTCACCTGAAGAGCTGGTCCCGGCCTCCAGCTTCCAGGGTAGCCGGGAAGCTGTAGCCCCCAGTGGGCAGCGGTGGAGAGAGCTCAAGGAAGGAGGGAGCACCGGGAGGAGACGGCTGCAGCCTGCCAGGAGCGGGGAGAAAGGGAGAGAAGGGGAGGCGGAGGGCTGAGGGGGCCCGGGGGACGTCTTCCCAGGGCTGGGAGGGGCCGGCCGGGAAGCCTGGGCTGCACTAGGAGCCGGCGACCCTGGGGCGAGGGGCGGCCCGGAGCCCTGCGGGAGGAGCTGGCGGCCGCCCCAGGTAGCAACCATCCTGCCTCCCGCTGGAGCGGCGTCTCCTCCCCGGGAGGAGGGCAGGGAGGAGGTGGGCGGAGTGTGACGAGGAGGGCGGGAGGGAGGGATGCGGGAGGGGGAGGGGGAGGGGGGCCGGCCGGCCGTGGGGGTGGGGCGATAGTGACATCACCCCGGAGTCGGTTTTTAAGCGGCGGCCGGCCGGGGACGGGGAAGAGAGGGATAGTCGGAGCGAGGTGGCGAGTCGCTGAGCCCGCCGCGGCCCCGAGAGCGGCTGCAGCCGCCGCCGCCGGGAAGGAGAGGGCGAGGCGCGCCCGAGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGCCACCACCGCCACCGGAGTCGCGGGCCAGCCGGGCAGCCTCCGCGGGCCCCGGCCGGGGCGGGGGGCGCGGGCCACAGGCCCCTGCTCCGGCCGCCGCTTGCAGACCGCGGGCGCCGATGTCGCCCGCGCCCCGCTAGGCTGAGCCTCGGGTCGGGCGAGGAGCCGCCGCAGCCGCCGCCGCCCGAGCCGCGGGCAGGAGCCTCGGGAGCCGCCGCCGCCGCCGCCGCCGCCCGGCCGGGCCCCGCCGCCGCCCGCGCGCCCCCGGGCCCCCGACACACATGAGATTCTTCAGGCTCACTTTCAAGTGCTTCGTGGACTGCTTCTGACTGCGCCGCCCGCGCCCCGCACCCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGACCCCGGCCCGGCCGTGCGGCCCGCCGAGGCCATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGACTTCATCATGTCGTGCGTGGGCTTCGCCGTGGGCTTGGGCAACGTGTGGCGCTTCCCCTACCTGTGCTACAAGAACGGCGGAGGTGAGTTCCCCCGCCCGCCGCGGCCTCCTCCCCCAGCAGGCCGCCGGCCCCCGCCCGACCCCCGGAGCCGCCGCGGAGGGGTGAAGTCCGGGCAACGGGTGGCCCCCGGGCACGCGGGGGTCGGGGCCGCCCCTCGTCCGCCGCTGCCGCTCGGTGGCCGGGCCGGGCGCCTCCACCCCCCTCGCAGTCATGTGCCTGGCATGGTGGGGGGAGGGGGCCGGCGATGCCCGCGAGGCTGCCCCCCAGACTCCCGGGCTGGGAGGAGCGATTGGCCGCCGAGGTGGGAAAGCAGGCCTGCGCCTTGGGGTCTCCGCGAGGTAAGGAGCCCTGGCTGCCCCCACGGGTCGGGCACACAAGCGGCACATTGTGTGGGCCCCCCACGTGTGCACACACACGAACACACACACACACAATGGGCCACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGN
|
pathogenic
| 340,181 |
Is the genetic change at chromosome X, position 153688762, within gene SLC6A8 (solute carrier family 6 member 8) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Creatine_transporter_deficiency']
|
CCTTGCCACCTCAGGGGTACCCACCCACCACCCCTGGTCTAAGCACAGGTGACACCGCCTGTCTCCCCCAACCACACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCACCCCACCCCCAGGCTACTCTTAGCCCTAGAAAATTCTAAACAAGCTGCTCAGCTGGCGGCGGAGAGGCAGCCCAACAAGCTGGCTCTTGCTAGGGAGGCCTGGGGGGTCCTGGGGAGAGGAACACGGGGTGGGTGGGGGGCGGGCAGCCAGGACCTCAGGCCTGAGGCCTTTGGGGAAGGGTCTGTGCACCTGCCAGGCACCAGGGGGCAGCCTTGCCTTGTTCCCGCTCCAGTCCCCTCAAGTCCGAAGCCCCTACCCACTCTCACGCCAGGCAGGGGTGGGGGCCGCCGGGGTCATTTACCCGGGCCCCTTCTCTGCCTTGATGACAAAGTCGAGGCTTGCTCATCAGCCAGGCAGGCTCCCCTCTGCCCACTGTGGAGACACAGAGGCCTGTCACCTGAAGAGCTGGTCCCGGCCTCCAGCTTCCAGGGTAGCCGGGAAGCTGTAGCCCCCAGTGGGCAGCGGTGGAGAGAGCTCAAGGAAGGAGGGAGCACCGGGAGGAGACGGCTGCAGCCTGCCAGGAGCGGGGAGAAAGGGAGAGAAGGGGAGGCGGAGGGCTGAGGGGGCCCGGGGGACGTCTTCCCAGGGCTGGGAGGGGCCGGCCGGGAAGCCTGGGCTGCACTAGGAGCCGGCGACCCTGGGGCGAGGGGCGGCCCGGAGCCCTGCGGGAGGAGCTGGCGGCCGCCCCAGGTAGCAACCATCCTGCCTCCCGCTGGAGCGGCGTCTCCTCCCCGGGAGGAGGGCAGGGAGGAGGTGGGCGGAGTGTGACGAGGAGGGCGGGAGGGAGGGATGCGGGAGGGGGAGGGGGAGGGGGGCCGGCCGGCCGTGGGGGTGGGGCGATAGTGACATCACCCCGGAGTCGGTTTTTAAGCGGCGGCCGGCCGGGGACGGGGAAGAGAGGGATAGTCGGAGCGAGGTGGCGAGTCGCTGAGCCCGCCGCGGCCCCGAGAGCGGCTGCAGCCGCCGCCGCCGGGAAGGAGAGGGCGAGGCGCGCCCGAGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGCCACCACCGCCACCGGAGTCGCGGGCCAGCCGGGCAGCCTCCGCGGGCCCCGGCCGGGGCGGGGGGCGCGGGCCACAGGCCCCTGCTCCGGCCGCCGCTTGCAGACCGCGGGCGCCGATGTCGCCCGCGCCCCGCTAGGCTGAGCCTCGGGTCGGGCGAGGAGCCGCCGCAGCCGCCGCCGCCCGAGCCGCGGGCAGGAGCCTCGGGAGCCGCCGCCGCCGCCGCCGCCGCCCGGCCGGGCCCCGCCGCCGCCCGCGCGCCCCCGGGCCCCCGACACACATGAGATTCTTCAGGCTCACTTTCAAGTGCTTCGTGGACTGCTTCTGACTGCGCCGCCCGCGCCCCGCACCCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGACCCCGGCCCGGCCGTGCGGCCCGCCGAGGCCATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGACTTCATCATGTCGTGCGTGGGCTTCGCCGTGGGCTTGGGCAACGTGTGGCGCTTCCCCTACCTGTGCTACAAGAACGGCGGAGGTGAGTTCCCCCGCCCGCCGCGGCCTCCTCCCCCAGCAGGCCGCCGGCCCCCGCCCGACCCCCGGAGCCGCCGCGGAGGGGTGAAGTCCGGGCAACGGGTGGCCCCCGGGCACGCGGGGGTCGGGGCCGCCCCTCGTCCGCCGCTGCCGCTCGGTGGCCGGGCCGGGCGCCTCCACCCCCCTCGCAGTCATGTGCCTGGCATGGTGGGGGGAGGGGGCCGGCGATGCCCGCGAGGCTGCCCCCCAGACTCCCGGGCTGGGAGGAGCGATTGGCCGCCGAGGTGGGAAAGCAGGCCTGCGCCTTGGGGTCTCCGCGAGGTAAGGAGCCCTGGCTGCCCCCACGGGTCGGGCACACAAGCGGCACATTGTGTGGGCCCCCCACGTGTGCACACACACGAACACACACACACACAATGGGCCACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCT
|
CCTTGCCACCTCAGGGGTACCCACCCACCACCCCTGGTCTAAGCACAGGTGACACCGCCTGTCTCCCCCAACCACACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCACCCCACCCCCAGGCTACTCTTAGCCCTAGAAAATTCTAAACAAGCTGCTCAGCTGGCGGCGGAGAGGCAGCCCAACAAGCTGGCTCTTGCTAGGGAGGCCTGGGGGGTCCTGGGGAGAGGAACACGGGGTGGGTGGGGGGCGGGCAGCCAGGACCTCAGGCCTGAGGCCTTTGGGGAAGGGTCTGTGCACCTGCCAGGCACCAGGGGGCAGCCTTGCCTTGTTCCCGCTCCAGTCCCCTCAAGTCCGAAGCCCCTACCCACTCTCACGCCAGGCAGGGGTGGGGGCCGCCGGGGTCATTTACCCGGGCCCCTTCTCTGCCTTGATGACAAAGTCGAGGCTTGCTCATCAGCCAGGCAGGCTCCCCTCTGCCCACTGTGGAGACACAGAGGCCTGTCACCTGAAGAGCTGGTCCCGGCCTCCAGCTTCCAGGGTAGCCGGGAAGCTGTAGCCCCCAGTGGGCAGCGGTGGAGAGAGCTCAAGGAAGGAGGGAGCACCGGGAGGAGACGGCTGCAGCCTGCCAGGAGCGGGGAGAAAGGGAGAGAAGGGGAGGCGGAGGGCTGAGGGGGCCCGGGGGACGTCTTCCCAGGGCTGGGAGGGGCCGGCCGGGAAGCCTGGGCTGCACTAGGAGCCGGCGACCCTGGGGCGAGGGGCGGCCCGGAGCCCTGCGGGAGGAGCTGGCGGCCGCCCCAGGTAGCAACCATCCTGCCTCCCGCTGGAGCGGCGTCTCCTCCCCGGGAGGAGGGCAGGGAGGAGGTGGGCGGAGTGTGACGAGGAGGGCGGGAGGGAGGGATGCGGGAGGGGGAGGGGGAGGGGGGCCGGCCGGCCGTGGGGGTGGGGCGATAGTGACATCACCCCGGAGTCGGTTTTTAAGCGGCGGCCGGCCGGGGACGGGGAAGAGAGGGATAGTCGGAGCGAGGTGGCGAGTCGCTGAGCCCGCCGCGGCCCCGAGAGCGGCTGCAGCCGCCGCCGCCGGGAAGGAGAGGGCGAGGCGCGCCCGAGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGCCACCACCGCCACCGGAGTCGCGGGCCAGCCGGGCAGCCTCCGCGGGCCCCGGCCGGGGCGGGGGGCGCGGGCCACAGGCCCCTGCTCCGGCCGCCGCTTGCAGACCGCGGGCGCCGATGTCGCCCGCGCCCCGCTAGGCTGAGCCTCGGGTCGGGCGAGGAGCCGCCGCAGCCGCCGCCGCCCGAGCCGCGGGCAGGAGCCTCGGGAGCCGCCGCCGCCGCCGCCGCCGCCCGGCCGGGCCCCGCCGCCGCCCGCGCGCCCCCGGGCCCCCGACACACATGAGATTCTTCAGGCTCACTTTCAAGTGCTTCGTGGACTGCTTCTGACTGCGCCGCCCGCGCCCCGCACCCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGACCCCGGCCCGGCCGTGCGGCCCGCCGAGGCCATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGACTTCATCATGTGCGTGGGCTTCGCCGTGGGCTTGGGCAACGTGTGGCGCTTCCCCTACCTGTGCTACAAGAACGGCGGAGGTGAGTTCCCCCGCCCGCCGCGGCCTCCTCCCCCAGCAGGCCGCCGGCCCCCGCCCGACCCCCGGAGCCGCCGCGGAGGGGTGAAGTCCGGGCAACGGGTGGCCCCCGGGCACGCGGGGGTCGGGGCCGCCCCTCGTCCGCCGCTGCCGCTCGGTGGCCGGGCCGGGCGCCTCCACCCCCCTCGCAGTCATGTGCCTGGCATGGTGGGGGGAGGGGGCCGGCGATGCCCGCGAGGCTGCCCCCCAGACTCCCGGGCTGGGAGGAGCGATTGGCCGCCGAGGTGGGAAAGCAGGCCTGCGCCTTGGGGTCTCCGCGAGGTAAGGAGCCCTGGCTGCCCCCACGGGTCGGGCACACAAGCGGCACATTGTGTGGGCCCCCCACGTGTGCACACACACGAACACACACACACACAATGGGCCACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTNNN
|
pathogenic
| 340,187 |
A genetic alteration at chromosome X, position 153688792, in gene SLC6A8 (solute carrier family 6 member 8)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Creatine_transporter_deficiency']
|
CCCCTGGTCTAAGCACAGGTGACACCGCCTGTCTCCCCCAACCACACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCACCCCACCCCCAGGCTACTCTTAGCCCTAGAAAATTCTAAACAAGCTGCTCAGCTGGCGGCGGAGAGGCAGCCCAACAAGCTGGCTCTTGCTAGGGAGGCCTGGGGGGTCCTGGGGAGAGGAACACGGGGTGGGTGGGGGGCGGGCAGCCAGGACCTCAGGCCTGAGGCCTTTGGGGAAGGGTCTGTGCACCTGCCAGGCACCAGGGGGCAGCCTTGCCTTGTTCCCGCTCCAGTCCCCTCAAGTCCGAAGCCCCTACCCACTCTCACGCCAGGCAGGGGTGGGGGCCGCCGGGGTCATTTACCCGGGCCCCTTCTCTGCCTTGATGACAAAGTCGAGGCTTGCTCATCAGCCAGGCAGGCTCCCCTCTGCCCACTGTGGAGACACAGAGGCCTGTCACCTGAAGAGCTGGTCCCGGCCTCCAGCTTCCAGGGTAGCCGGGAAGCTGTAGCCCCCAGTGGGCAGCGGTGGAGAGAGCTCAAGGAAGGAGGGAGCACCGGGAGGAGACGGCTGCAGCCTGCCAGGAGCGGGGAGAAAGGGAGAGAAGGGGAGGCGGAGGGCTGAGGGGGCCCGGGGGACGTCTTCCCAGGGCTGGGAGGGGCCGGCCGGGAAGCCTGGGCTGCACTAGGAGCCGGCGACCCTGGGGCGAGGGGCGGCCCGGAGCCCTGCGGGAGGAGCTGGCGGCCGCCCCAGGTAGCAACCATCCTGCCTCCCGCTGGAGCGGCGTCTCCTCCCCGGGAGGAGGGCAGGGAGGAGGTGGGCGGAGTGTGACGAGGAGGGCGGGAGGGAGGGATGCGGGAGGGGGAGGGGGAGGGGGGCCGGCCGGCCGTGGGGGTGGGGCGATAGTGACATCACCCCGGAGTCGGTTTTTAAGCGGCGGCCGGCCGGGGACGGGGAAGAGAGGGATAGTCGGAGCGAGGTGGCGAGTCGCTGAGCCCGCCGCGGCCCCGAGAGCGGCTGCAGCCGCCGCCGCCGGGAAGGAGAGGGCGAGGCGCGCCCGAGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGCCACCACCGCCACCGGAGTCGCGGGCCAGCCGGGCAGCCTCCGCGGGCCCCGGCCGGGGCGGGGGGCGCGGGCCACAGGCCCCTGCTCCGGCCGCCGCTTGCAGACCGCGGGCGCCGATGTCGCCCGCGCCCCGCTAGGCTGAGCCTCGGGTCGGGCGAGGAGCCGCCGCAGCCGCCGCCGCCCGAGCCGCGGGCAGGAGCCTCGGGAGCCGCCGCCGCCGCCGCCGCCGCCCGGCCGGGCCCCGCCGCCGCCCGCGCGCCCCCGGGCCCCCGACACACATGAGATTCTTCAGGCTCACTTTCAAGTGCTTCGTGGACTGCTTCTGACTGCGCCGCCCGCGCCCCGCACCCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGACCCCGGCCCGGCCGTGCGGCCCGCCGAGGCCATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGACTTCATCATGTCGTGCGTGGGCTTCGCCGTGGGCTTGGGCAACGTGTGGCGCTTCCCCTACCTGTGCTACAAGAACGGCGGAGGTGAGTTCCCCCGCCCGCCGCGGCCTCCTCCCCCAGCAGGCCGCCGGCCCCCGCCCGACCCCCGGAGCCGCCGCGGAGGGGTGAAGTCCGGGCAACGGGTGGCCCCCGGGCACGCGGGGGTCGGGGCCGCCCCTCGTCCGCCGCTGCCGCTCGGTGGCCGGGCCGGGCGCCTCCACCCCCCTCGCAGTCATGTGCCTGGCATGGTGGGGGGAGGGGGCCGGCGATGCCCGCGAGGCTGCCCCCCAGACTCCCGGGCTGGGAGGAGCGATTGGCCGCCGAGGTGGGAAAGCAGGCCTGCGCCTTGGGGTCTCCGCGAGGTAAGGAGCCCTGGCTGCCCCCACGGGTCGGGCACACAAGCGGCACATTGTGTGGGCCCCCCACGTGTGCACACACACGAACACACACACACACAATGGGCCACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGA
|
CCCCTGGTCTAAGCACAGGTGACACCGCCTGTCTCCCCCAACCACACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCACCCCACCCCCAGGCTACTCTTAGCCCTAGAAAATTCTAAACAAGCTGCTCAGCTGGCGGCGGAGAGGCAGCCCAACAAGCTGGCTCTTGCTAGGGAGGCCTGGGGGGTCCTGGGGAGAGGAACACGGGGTGGGTGGGGGGCGGGCAGCCAGGACCTCAGGCCTGAGGCCTTTGGGGAAGGGTCTGTGCACCTGCCAGGCACCAGGGGGCAGCCTTGCCTTGTTCCCGCTCCAGTCCCCTCAAGTCCGAAGCCCCTACCCACTCTCACGCCAGGCAGGGGTGGGGGCCGCCGGGGTCATTTACCCGGGCCCCTTCTCTGCCTTGATGACAAAGTCGAGGCTTGCTCATCAGCCAGGCAGGCTCCCCTCTGCCCACTGTGGAGACACAGAGGCCTGTCACCTGAAGAGCTGGTCCCGGCCTCCAGCTTCCAGGGTAGCCGGGAAGCTGTAGCCCCCAGTGGGCAGCGGTGGAGAGAGCTCAAGGAAGGAGGGAGCACCGGGAGGAGACGGCTGCAGCCTGCCAGGAGCGGGGAGAAAGGGAGAGAAGGGGAGGCGGAGGGCTGAGGGGGCCCGGGGGACGTCTTCCCAGGGCTGGGAGGGGCCGGCCGGGAAGCCTGGGCTGCACTAGGAGCCGGCGACCCTGGGGCGAGGGGCGGCCCGGAGCCCTGCGGGAGGAGCTGGCGGCCGCCCCAGGTAGCAACCATCCTGCCTCCCGCTGGAGCGGCGTCTCCTCCCCGGGAGGAGGGCAGGGAGGAGGTGGGCGGAGTGTGACGAGGAGGGCGGGAGGGAGGGATGCGGGAGGGGGAGGGGGAGGGGGGCCGGCCGGCCGTGGGGGTGGGGCGATAGTGACATCACCCCGGAGTCGGTTTTTAAGCGGCGGCCGGCCGGGGACGGGGAAGAGAGGGATAGTCGGAGCGAGGTGGCGAGTCGCTGAGCCCGCCGCGGCCCCGAGAGCGGCTGCAGCCGCCGCCGCCGGGAAGGAGAGGGCGAGGCGCGCCCGAGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGCCACCACCGCCACCGGAGTCGCGGGCCAGCCGGGCAGCCTCCGCGGGCCCCGGCCGGGGCGGGGGGCGCGGGCCACAGGCCCCTGCTCCGGCCGCCGCTTGCAGACCGCGGGCGCCGATGTCGCCCGCGCCCCGCTAGGCTGAGCCTCGGGTCGGGCGAGGAGCCGCCGCAGCCGCCGCCGCCCGAGCCGCGGGCAGGAGCCTCGGGAGCCGCCGCCGCCGCCGCCGCCGCCCGGCCGGGCCCCGCCGCCGCCCGCGCGCCCCCGGGCCCCCGACACACATGAGATTCTTCAGGCTCACTTTCAAGTGCTTCGTGGACTGCTTCTGACTGCGCCGCCCGCGCCCCGCACCCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGACCCCGGCCCGGCCGTGCGGCCCGCCGAGGCCATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGACTTCATCATGTCGTGCGTGGGCTTCGCCGTGGGCTTGGGAACGTGTGGCGCTTCCCCTACCTGTGCTACAAGAACGGCGGAGGTGAGTTCCCCCGCCCGCCGCGGCCTCCTCCCCCAGCAGGCCGCCGGCCCCCGCCCGACCCCCGGAGCCGCCGCGGAGGGGTGAAGTCCGGGCAACGGGTGGCCCCCGGGCACGCGGGGGTCGGGGCCGCCCCTCGTCCGCCGCTGCCGCTCGGTGGCCGGGCCGGGCGCCTCCACCCCCCTCGCAGTCATGTGCCTGGCATGGTGGGGGGAGGGGGCCGGCGATGCCCGCGAGGCTGCCCCCCAGACTCCCGGGCTGGGAGGAGCGATTGGCCGCCGAGGTGGGAAAGCAGGCCTGCGCCTTGGGGTCTCCGCGAGGTAAGGAGCCCTGGCTGCCCCCACGGGTCGGGCACACAAGCGGCACATTGTGTGGGCCCCCCACGTGTGCACACACACGAACACACACACACACAATGGGCCACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAN
|
pathogenic
| 340,189 |
Benign or pathogenic: chromosome X, position 153688836, gene SLC6A8 (solute carrier family 6 member 8) variant? Disease(s) if pathogenic?
|
pathogenic; ['Creatine_transporter_deficiency']
|
CACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCACCCCACCCCCAGGCTACTCTTAGCCCTAGAAAATTCTAAACAAGCTGCTCAGCTGGCGGCGGAGAGGCAGCCCAACAAGCTGGCTCTTGCTAGGGAGGCCTGGGGGGTCCTGGGGAGAGGAACACGGGGTGGGTGGGGGGCGGGCAGCCAGGACCTCAGGCCTGAGGCCTTTGGGGAAGGGTCTGTGCACCTGCCAGGCACCAGGGGGCAGCCTTGCCTTGTTCCCGCTCCAGTCCCCTCAAGTCCGAAGCCCCTACCCACTCTCACGCCAGGCAGGGGTGGGGGCCGCCGGGGTCATTTACCCGGGCCCCTTCTCTGCCTTGATGACAAAGTCGAGGCTTGCTCATCAGCCAGGCAGGCTCCCCTCTGCCCACTGTGGAGACACAGAGGCCTGTCACCTGAAGAGCTGGTCCCGGCCTCCAGCTTCCAGGGTAGCCGGGAAGCTGTAGCCCCCAGTGGGCAGCGGTGGAGAGAGCTCAAGGAAGGAGGGAGCACCGGGAGGAGACGGCTGCAGCCTGCCAGGAGCGGGGAGAAAGGGAGAGAAGGGGAGGCGGAGGGCTGAGGGGGCCCGGGGGACGTCTTCCCAGGGCTGGGAGGGGCCGGCCGGGAAGCCTGGGCTGCACTAGGAGCCGGCGACCCTGGGGCGAGGGGCGGCCCGGAGCCCTGCGGGAGGAGCTGGCGGCCGCCCCAGGTAGCAACCATCCTGCCTCCCGCTGGAGCGGCGTCTCCTCCCCGGGAGGAGGGCAGGGAGGAGGTGGGCGGAGTGTGACGAGGAGGGCGGGAGGGAGGGATGCGGGAGGGGGAGGGGGAGGGGGGCCGGCCGGCCGTGGGGGTGGGGCGATAGTGACATCACCCCGGAGTCGGTTTTTAAGCGGCGGCCGGCCGGGGACGGGGAAGAGAGGGATAGTCGGAGCGAGGTGGCGAGTCGCTGAGCCCGCCGCGGCCCCGAGAGCGGCTGCAGCCGCCGCCGCCGGGAAGGAGAGGGCGAGGCGCGCCCGAGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGCCACCACCGCCACCGGAGTCGCGGGCCAGCCGGGCAGCCTCCGCGGGCCCCGGCCGGGGCGGGGGGCGCGGGCCACAGGCCCCTGCTCCGGCCGCCGCTTGCAGACCGCGGGCGCCGATGTCGCCCGCGCCCCGCTAGGCTGAGCCTCGGGTCGGGCGAGGAGCCGCCGCAGCCGCCGCCGCCCGAGCCGCGGGCAGGAGCCTCGGGAGCCGCCGCCGCCGCCGCCGCCGCCCGGCCGGGCCCCGCCGCCGCCCGCGCGCCCCCGGGCCCCCGACACACATGAGATTCTTCAGGCTCACTTTCAAGTGCTTCGTGGACTGCTTCTGACTGCGCCGCCCGCGCCCCGCACCCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGACCCCGGCCCGGCCGTGCGGCCCGCCGAGGCCATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGACTTCATCATGTCGTGCGTGGGCTTCGCCGTGGGCTTGGGCAACGTGTGGCGCTTCCCCTACCTGTGCTACAAGAACGGCGGAGGTGAGTTCCCCCGCCCGCCGCGGCCTCCTCCCCCAGCAGGCCGCCGGCCCCCGCCCGACCCCCGGAGCCGCCGCGGAGGGGTGAAGTCCGGGCAACGGGTGGCCCCCGGGCACGCGGGGGTCGGGGCCGCCCCTCGTCCGCCGCTGCCGCTCGGTGGCCGGGCCGGGCGCCTCCACCCCCCTCGCAGTCATGTGCCTGGCATGGTGGGGGGAGGGGGCCGGCGATGCCCGCGAGGCTGCCCCCCAGACTCCCGGGCTGGGAGGAGCGATTGGCCGCCGAGGTGGGAAAGCAGGCCTGCGCCTTGGGGTCTCCGCGAGGTAAGGAGCCCTGGCTGCCCCCACGGGTCGGGCACACAAGCGGCACATTGTGTGGGCCCCCCACGTGTGCACACACACGAACACACACACACACAATGGGCCACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGC
|
CACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCACCCCACCCCCAGGCTACTCTTAGCCCTAGAAAATTCTAAACAAGCTGCTCAGCTGGCGGCGGAGAGGCAGCCCAACAAGCTGGCTCTTGCTAGGGAGGCCTGGGGGGTCCTGGGGAGAGGAACACGGGGTGGGTGGGGGGCGGGCAGCCAGGACCTCAGGCCTGAGGCCTTTGGGGAAGGGTCTGTGCACCTGCCAGGCACCAGGGGGCAGCCTTGCCTTGTTCCCGCTCCAGTCCCCTCAAGTCCGAAGCCCCTACCCACTCTCACGCCAGGCAGGGGTGGGGGCCGCCGGGGTCATTTACCCGGGCCCCTTCTCTGCCTTGATGACAAAGTCGAGGCTTGCTCATCAGCCAGGCAGGCTCCCCTCTGCCCACTGTGGAGACACAGAGGCCTGTCACCTGAAGAGCTGGTCCCGGCCTCCAGCTTCCAGGGTAGCCGGGAAGCTGTAGCCCCCAGTGGGCAGCGGTGGAGAGAGCTCAAGGAAGGAGGGAGCACCGGGAGGAGACGGCTGCAGCCTGCCAGGAGCGGGGAGAAAGGGAGAGAAGGGGAGGCGGAGGGCTGAGGGGGCCCGGGGGACGTCTTCCCAGGGCTGGGAGGGGCCGGCCGGGAAGCCTGGGCTGCACTAGGAGCCGGCGACCCTGGGGCGAGGGGCGGCCCGGAGCCCTGCGGGAGGAGCTGGCGGCCGCCCCAGGTAGCAACCATCCTGCCTCCCGCTGGAGCGGCGTCTCCTCCCCGGGAGGAGGGCAGGGAGGAGGTGGGCGGAGTGTGACGAGGAGGGCGGGAGGGAGGGATGCGGGAGGGGGAGGGGGAGGGGGGCCGGCCGGCCGTGGGGGTGGGGCGATAGTGACATCACCCCGGAGTCGGTTTTTAAGCGGCGGCCGGCCGGGGACGGGGAAGAGAGGGATAGTCGGAGCGAGGTGGCGAGTCGCTGAGCCCGCCGCGGCCCCGAGAGCGGCTGCAGCCGCCGCCGCCGGGAAGGAGAGGGCGAGGCGCGCCCGAGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGCCACCACCGCCACCGGAGTCGCGGGCCAGCCGGGCAGCCTCCGCGGGCCCCGGCCGGGGCGGGGGGCGCGGGCCACAGGCCCCTGCTCCGGCCGCCGCTTGCAGACCGCGGGCGCCGATGTCGCCCGCGCCCCGCTAGGCTGAGCCTCGGGTCGGGCGAGGAGCCGCCGCAGCCGCCGCCGCCCGAGCCGCGGGCAGGAGCCTCGGGAGCCGCCGCCGCCGCCGCCGCCGCCCGGCCGGGCCCCGCCGCCGCCCGCGCGCCCCCGGGCCCCCGACACACATGAGATTCTTCAGGCTCACTTTCAAGTGCTTCGTGGACTGCTTCTGACTGCGCCGCCCGCGCCCCGCACCCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGACCCCGGCCCGGCCGTGCGGCCCGCCGAGGCCATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGACTTCATCATGTCGTGCGTGGGCTTCGCCGTGGGCTTGGGCAACGTGTGGCGCTTCCCCTACCTGTGCTACAAGAACGGCGGATTTGAGTTCCCCCGCCCGCCGCGGCCTCCTCCCCCAGCAGGCCGCCGGCCCCCGCCCGACCCCCGGAGCCGCCGCGGAGGGGTGAAGTCCGGGCAACGGGTGGCCCCCGGGCACGCGGGGGTCGGGGCCGCCCCTCGTCCGCCGCTGCCGCTCGGTGGCCGGGCCGGGCGCCTCCACCCCCCTCGCAGTCATGTGCCTGGCATGGTGGGGGGAGGGGGCCGGCGATGCCCGCGAGGCTGCCCCCCAGACTCCCGGGCTGGGAGGAGCGATTGGCCGCCGAGGTGGGAAAGCAGGCCTGCGCCTTGGGGTCTCCGCGAGGTAAGGAGCCCTGGCTGCCCCCACGGGTCGGGCACACAAGCGGCACATTGTGTGGGCCCCCCACGTGTGCACACACACGAACACACACACACACAATGGGCCACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGC
|
pathogenic
| 340,191 |
The mutation impacting SLC6A8 (solute carrier family 6 member 8) on chromosome X at position 153690427: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Creatine_transporter_deficiency', 'Inborn_genetic_diseases']
|
ACTGCTTCTGACTGCGCCGCCCGCGCCCCGCACCCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGACCCCGGCCCGGCCGTGCGGCCCGCCGAGGCCATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGACTTCATCATGTCGTGCGTGGGCTTCGCCGTGGGCTTGGGCAACGTGTGGCGCTTCCCCTACCTGTGCTACAAGAACGGCGGAGGTGAGTTCCCCCGCCCGCCGCGGCCTCCTCCCCCAGCAGGCCGCCGGCCCCCGCCCGACCCCCGGAGCCGCCGCGGAGGGGTGAAGTCCGGGCAACGGGTGGCCCCCGGGCACGCGGGGGTCGGGGCCGCCCCTCGTCCGCCGCTGCCGCTCGGTGGCCGGGCCGGGCGCCTCCACCCCCCTCGCAGTCATGTGCCTGGCATGGTGGGGGGAGGGGGCCGGCGATGCCCGCGAGGCTGCCCCCCAGACTCCCGGGCTGGGAGGAGCGATTGGCCGCCGAGGTGGGAAAGCAGGCCTGCGCCTTGGGGTCTCCGCGAGGTAAGGAGCCCTGGCTGCCCCCACGGGTCGGGCACACAAGCGGCACATTGTGTGGGCCCCCCACGTGTGCACACACACGAACACACACACACACAATGGGCCACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGG
|
ACTGCTTCTGACTGCGCCGCCCGCGCCCCGCACCCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGACCCCGGCCCGGCCGTGCGGCCCGCCGAGGCCATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCGCCTGGCCGTGCCGCCGCGCGAGACCTGGACGCGCCAGATGGACTTCATCATGTCGTGCGTGGGCTTCGCCGTGGGCTTGGGCAACGTGTGGCGCTTCCCCTACCTGTGCTACAAGAACGGCGGAGGTGAGTTCCCCCGCCCGCCGCGGCCTCCTCCCCCAGCAGGCCGCCGGCCCCCGCCCGACCCCCGGAGCCGCCGCGGAGGGGTGAAGTCCGGGCAACGGGTGGCCCCCGGGCACGCGGGGGTCGGGGCCGCCCCTCGTCCGCCGCTGCCGCTCGGTGGCCGGGCCGGGCGCCTCCACCCCCCTCGCAGTCATGTGCCTGGCATGGTGGGGGGAGGGGGCCGGCGATGCCCGCGAGGCTGCCCCCCAGACTCCCGGGCTGGGAGGAGCGATTGGCCGCCGAGGTGGGAAAGCAGGCCTGCGCCTTGGGGTCTCCGCGAGGTAAGGAGCCCTGGCTGCCCCCACGGGTCGGGCACACAAGCGGCACATTGTGTGGGCCCCCCACGTGTGCACACACACGAACACACACACACACAATGGGCCACTCTGTCCCTCCCCCTGCCCTCCCCTCCCCTCGCGGCCCTCCCGCCCCTCCCCTCTGGCCCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGNNN
|
pathogenic
| 340,194 |
Variant chromosome X, position 153691364, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? Disease(s)?
|
pathogenic; ['Creatine_transporter_deficiency']
|
CCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCC
|
CCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCC
|
pathogenic
| 340,202 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 153691405, gene SLC6A8 (solute carrier family 6 member 8). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Creatine_transporter_deficiency']
|
CCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCC
|
CCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCAGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCN
|
pathogenic
| 340,206 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 153691476, gene SLC6A8 (solute carrier family 6 member 8). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Creatine_transporter_deficiency']
|
GCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCT
|
GCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTNN
|
pathogenic
| 340,214 |
Gene mutation in SLC6A8 (solute carrier family 6 member 8) at chromosome X, position 153691534—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Creatine_transporter_deficiency']
|
AACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGA
|
AACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGANN
|
pathogenic
| 340,218 |
Gene mutation in SLC6A8 (solute carrier family 6 member 8) at chromosome X, position 153691542—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Creatine_transporter_deficiency']
|
TGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTA
|
TGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCTGGCCCCTCTTCCGCACCTGTATCCCTCTGTCCTTGCACATCGCCATCCCACCAGCAGGGGACTGTGACCCACCCACCCTCTGCCTTAGACCTCACACTTGCAGGCAAGCGTCCAAGGGCAGGACAGTCGCGCTCCCTGCCTTTGGATGAGCCCCCCAGGCCTGATCACCCAGCCTTGGCACACATGCACACATGCACGTGCCCTCACTGTGCTGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTANN
|
pathogenic
| 340,220 |
Considering the genetic mutation at chromosome X, position 153692074, impacting SLC6A8 (solute carrier family 6 member 8): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Creatine_transporter_deficiency']
|
TGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCT
|
TGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACCCTGAGTCCACGCTGTGCCTCCACCCCCAGGTGTGTTCCTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGTCCCCTGTTCAAAGGTGAGCAGCCCTTGGCCAGCCTCAGGGACTGCCCCCTTCTCCCAGCTGGCTCCCACTTGAGAAATCTTTTCCTGTCGTGAGCACCAGGCCTGGGGCCACGTGATGGCGTCCCAGTCTCGAGGGGGGAGCCTGGAGGAGATGTTCAGGCCGCACAGCGAACTTGGGGAAGCGGGGACTAGAGGGGGCATAGGCAGCTCCACAAGGCAAGGACAGGCCAGGCATAGCCGGGCTGGGGACGGGACCTGCCCAGCAGCACCCTTGGCTCTCTAGGTAGGTCCTACTGTTACTATCCCCAAGGACGCTGGGGCACAGACAGGTGGAGCGACGTACTGAGGTTGCCCACTGCAGGGGCGACTGTCTCCAACACTACCTCAGGCGACTAGAAACCCCCCCCCCCCACCACCACCATCAACACCAGCTGCTGAGGACTGGAGGCTACTGGGTGGCCAGGCAGAGGCTTGGACCTCCTGGAACCGCCATGGTGGCAGTGGGACCCACAGAAGGGGCCAGGTGTATGAGGCTGGAGACTCCACAGCACTTGGTCAGATGGGGACAGGAGGAGAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTNN
|
pathogenic
| 340,232 |
A genetic variant on chromosome X, position 153693116, affects the gene SLC6A8 (solute carrier family 6 member 8). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Creatine_transporter_deficiency']
|
GAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTG
|
GAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGN
|
pathogenic
| 340,244 |
A genetic alteration at chromosome X, position 153693120, in gene SLC6A8 (solute carrier family 6 member 8)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Creatine_transporter_deficiency']
|
GGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCC
|
GGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCN
|
pathogenic
| 340,246 |
Considering the genetic mutation at chromosome X, position 153693138, impacting SLC6A8 (solute carrier family 6 member 8): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Creatine_transporter_deficiency']
|
TCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCA
|
TCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCANN
|
pathogenic
| 340,247 |
A genetic alteration at chromosome X, position 153693287, in gene SLC6A8 (solute carrier family 6 member 8)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Creatine_transporter_deficiency']
|
ATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGG
|
ATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGNNNNN
|
pathogenic
| 340,256 |
Determine if the mutation at chromosome X, position 153693289 in gene SLC6A8 (solute carrier family 6 member 8) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Creatine_transporter_deficiency']
|
AAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAG
|
AAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGNNN
|
pathogenic
| 340,257 |
Assess the variant on chromosome X, position 153693292, impacting SLC6A8 (solute carrier family 6 member 8): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Creatine_transporter_deficiency']
|
GGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGG
|
GGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGG
|
pathogenic
| 340,258 |
Variant in SLC6A8 (solute carrier family 6 member 8), chromosome X, position 153693299—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Creatine_transporter_deficiency']
|
CAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGC
|
CAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTAACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAG
|
pathogenic
| 340,259 |
Variant at chromosome position 153693321, chromosome X, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Creatine_transporter_deficiency']
|
AATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACA
|
AATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACANN
|
pathogenic
| 340,261 |
Does the genetic variant at chromosome X, position 153693348, impacting gene SLC6A8 (solute carrier family 6 member 8), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Creatine_transporter_deficiency']
|
CCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCA
|
CCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCANNN
|
pathogenic
| 340,265 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 153693364, gene SLC6A8 (solute carrier family 6 member 8). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Creatine_transporter_deficiency', 'Intellectual_disability']
|
CCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCA
|
CCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCANNNN
|
pathogenic
| 340,266 |
Mutation found at chromosome X position 153693500, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Creatine_transporter_deficiency']
|
CGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCT
|
CGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTNNN
|
pathogenic
| 340,275 |
Variant in gene SLC6A8 (solute carrier family 6 member 8), located at chromosome X position 153693520: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Creatine_transporter_deficiency', 'SLC6A8-related_disorder']
|
AAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGG
|
AAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGNNN
|
pathogenic
| 340,277 |
Mutation found at chromosome X position 153693578, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Creatine_transporter_deficiency', 'Inborn_genetic_diseases']
|
GTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGA
|
GTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAATTGGACAAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGANN
|
pathogenic
| 340,279 |
Clinically, how would you classify the variant at chromosome X, position 153693903, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Creatine_transporter_deficiency']
|
AAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAAT
|
AAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAG
|
pathogenic
| 340,284 |
Located at chromosome X position 153693978, the variant affecting gene SLC6A8 (solute carrier family 6 member 8)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Creatine_transporter_deficiency']
|
TCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTG
|
TCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGNNN
|
pathogenic
| 340,294 |
Is the chromosome X, position 153693996 variant in SLC6A8 (solute carrier family 6 member 8) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Creatine_transporter_deficiency']
|
CTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTC
|
CTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCNNNNNNNNNNNNNN
|
pathogenic
| 340,295 |
Does the chromosome X mutation at position 153694154 within gene SLC6A8 (solute carrier family 6 member 8) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Creatine_transporter_deficiency']
|
AGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTG
|
AGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 340,300 |
Does the variant on chromosome X at location 153694167 affecting gene SLC6A8 (solute carrier family 6 member 8) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Creatine_transporter_deficiency']
|
GGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTC
|
GGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCNNNNNNNNNNN
|
pathogenic
| 340,305 |
The mutation impacting SLC6A8 (solute carrier family 6 member 8) on chromosome X at position 153694191: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Creatine_transporter_deficiency']
|
AGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCA
|
AGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGC
|
pathogenic
| 340,306 |
Does the genetic variant at chromosome X, position 153694197, impacting gene SLC6A8 (solute carrier family 6 member 8), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Creatine_transporter_deficiency']
|
GGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGC
|
GGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCN
|
pathogenic
| 340,307 |
Determine whether the variant at chromosome X, position 153694212, in gene SLC6A8 (solute carrier family 6 member 8) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Creatine_transporter_deficiency']
|
GTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCC
|
GTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCNN
|
pathogenic
| 340,308 |
A genetic variant at chromosome X, position 153694243, affecting gene SLC6A8 (solute carrier family 6 member 8)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Creatine_transporter_deficiency']
|
ACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTC
|
ACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCNNNN
|
pathogenic
| 340,309 |
Chromosome X, position 153694278, gene SLC6A8 (solute carrier family 6 member 8): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
ACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGA
|
ACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGG
|
benign
| 340,310 |
Variant at chromosome position 153694283, chromosome X, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Creatine_transporter_deficiency']
|
AAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGA
|
AAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGANNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 340,311 |
Is chromosome X, position 153694342, gene SLC6A8 (solute carrier family 6 member 8) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Creatine_transporter_deficiency']
|
ATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTC
|
ATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCN
|
pathogenic
| 340,313 |
Is the genetic mutation found on chromosome X at position 153694365, within the gene SLC6A8 (solute carrier family 6 member 8), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Creatine_transporter_deficiency']
|
CCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCA
|
CCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCANNNN
|
pathogenic
| 340,318 |
A genetic alteration at chromosome X, position 153694381, in gene SLC6A8 (solute carrier family 6 member 8)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Creatine_transporter_deficiency']
|
TCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGT
|
TCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACG
|
pathogenic
| 340,322 |
Considering the variant on chromosome X, location 153694551, involving gene SLC6A8 (solute carrier family 6 member 8), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Creatine_transporter_deficiency']
|
CTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCT
|
CTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 340,343 |
The mutation impacting SLC6A8 (solute carrier family 6 member 8) on chromosome X at position 153694593: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Creatine_transporter_deficiency']
|
CCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGG
|
CCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATTTTCGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTA
|
pathogenic
| 340,350 |
Gene SLC6A8 (solute carrier family 6 member 8) variant at chromosome X, position 153694652—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
CTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCGTGAGCAAGGCTCTGCTCTGGAG
|
CTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCG
|
benign
| 340,351 |
Gene mutation in SLC6A8 (solute carrier family 6 member 8) at chromosome X, position 153694810—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Creatine_transporter_deficiency']
|
GCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCGTGAGCAAGGCTCTGCTCTGGAGGCCTCTGCGGCCGGCACCCTTCTGGGGACTGGGAAGGGGGCAGGGAAGGCAGCAGCCCAGGGGAAGGCCTTGTCCCCCTGGAGCCGAGGCAGTTGGGGAGAGCAGGACGAGAGTGAGCTGGAGAGCAGCCACACCCGCGGGGAAGGGTGGGCGTAAAG
|
GCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCGTGAGCAAGGCTCTGCTCTGGAGGCCTCTGCGGCCGGCACCCTTCTGGGGACTGGGAAGGGGGCAGGGAAGGCAGCAGCCCAGGGGAAGGCCTTGTCCCCCTGGAGCCGAGGCAGTTGGGGAGAGCAGGACGAGAGTGAGCTGGAGAGCAGCCACACCCGCGGGGAAGGGTGGGCGTAAAGNNNNNNNNNNNNNN
|
pathogenic
| 340,371 |
Is the variant located on chromosome X at position 153694890, gene SLC6A8 (solute carrier family 6 member 8), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Creatine_transporter_deficiency']
|
CCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCGTGAGCAAGGCTCTGCTCTGGAGGCCTCTGCGGCCGGCACCCTTCTGGGGACTGGGAAGGGGGCAGGGAAGGCAGCAGCCCAGGGGAAGGCCTTGTCCCCCTGGAGCCGAGGCAGTTGGGGAGAGCAGGACGAGAGTGAGCTGGAGAGCAGCCACACCCGCGGGGAAGGGTGGGCGTAAAGCCATGGGTGCTGAAATTTTCAAAATGTTACCCCAAGAATTTGTCACTGAACAGGTGCCTTGTGTCACTTGGGCCAGGCTG
|
CCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGATAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCGTGAGCAAGGCTCTGCTCTGGAGGCCTCTGCGGCCGGCACCCTTCTGGGGACTGGGAAGGGGGCAGGGAAGGCAGCAGCCCAGGGGAAGGCCTTGTCCCCCTGGAGCCGAGGCAGTTGGGGAGAGCAGGACGAGAGTGAGCTGGAGAGCAGCCACACCCGCGGGGAAGGGTGGGCGTAAAGCCATGGGTGCTGAAATTTTCAAAATGTTACCCCAAGAATTTGTCACTGAACAGGTGCCTTGTGTCACTTGGGCCAGGCT
|
pathogenic
| 340,380 |
Clinically, how would you classify the variant at chromosome X, position 153694895, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
benign
|
GGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCGTGAGCAAGGCTCTGCTCTGGAGGCCTCTGCGGCCGGCACCCTTCTGGGGACTGGGAAGGGGGCAGGGAAGGCAGCAGCCCAGGGGAAGGCCTTGTCCCCCTGGAGCCGAGGCAGTTGGGGAGAGCAGGACGAGAGTGAGCTGGAGAGCAGCCACACCCGCGGGGAAGGGTGGGCGTAAAGCCATGGGTGCTGAAATTTTCAAAATGTTACCCCAAGAATTTGTCACTGAACAGGTGCCTTGTGTCACTTGGGCCAGGCTGGTAGC
|
GGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGGTCCCCTCAGGTGAGGTGGAGGTGGAGAGGCTGCAGCAGGGCGCTGCGGGGGAGCCCTGCAGGCCCCTCATGCCTGCGCTCTCCGGCCCTTCTCTAGGTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGCCATTGGCCTGGGGGCCCTCACAGCCCTGGGCAGCTACAACCGCTTCAACAACAACTGCTACAAGTAAGCACCGCCGCCCTGCCACCCGTGCCCTGTCCTGCCCTGCCCCGCCCTGCCCAGCAGCCTAACCCATCCACTCTGGCCCCTCCACCCCTCAGGGACGCCATCATCCTGGCTCTCATCAACAGTGGGACCAGCTTCTTTGCTGGCTTCGTGGTCTTCTCCATCCTGGGCTTCATGGCTGCAGAGCAGGGCGTGCACATCTCCAAGGTGGCAGAGTCAGGTAGGGCCCTACCCCCAGCCCCGCCTCCAGAGCAGCGAGTGCTACCCAGATGCATGATGTACAGGAACATGCAATAGAAATGCTGAAAAGTGACGAGGATTCAAACGGAACTTGTCAGATTGTGGGCCTGTGGGGGCAGGTCCTGGGATTTGTCAATGTTGACAGAGAAAGGACCTCCCAGCCCCTGCCGCACGACCCAGGGTTGACAGCGCCTCTGAGGCAGGCGTGGGCATGGGCGCGAGTGTTGCAGGCAGGGCTCAGGGTGCGCACAGGGCAGGACATCGGCTACAAGGTCTAGAGCCTGCACCTTTCCCACAGGGCCGGGCCTGGCCTTCATCGCCTACCCGCGGGCTGTCACGCTGATGCCAGTGGCCCCACTCTGGGCTGCCCTGTTCTTCTTCATGCTGTTGCTGCTTGGTCTCGACAGCCAGGTTTGCATGGGGCTCTGGGACAGGGAGCCAGGAGGGGGGCGGAGGGAGGGCTGCAGGCAAGGAAAGGGGTGGAGGGCGGTGCGGGGCTCGGCCTGAGCTGCCCTGGCCACAGTTTGTAGGTGTGGAGGGCTTCATCACCGGCCTCCTCGACCTCCTCCCGGCCTCCTACTACTTCCGTTTCCAAAGGGAGATCTCTGTGGCCCTCTGTTGTGCCCTCTGCTTTGTCATCGATCTCTCCATGGTGACTGATGTGAGTGGGGTGGGGGGTCTGCCTGTGACCTCTGGTGGCCGTCTGCCATCCTCCCTGACTGGGCTCTGTCCCCCAGGGCGGGATGTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTACAACAACACCTACGTGTACCCGTGGTGGGGTGAGGCCATGGGCTGGGCCTTCGCCCTGTCCTCCATGCTGTGCGTGCCGCTGCACCTCCTGGGCTGCCTCCTCAGGGCCAAGGGCACCATGGCTGAGGTAAGGCTCCCTCCCGCCCGGCCCGCCCTCCCCTCCCCTGCTGTGAACATTCAACCCAGCCTGCTTCCTAGCCAGGGAGTGGCCCCGACTAGGGTGGCAGGCAGTGGGAACCGGAGAGAGGCAGAGGAAGTCACCGTGGGGACGAGCAGGTGACCCTGGGGGCTTCAGCATGTCCTCCTCTCCTGCAGCGCTGGCAGCACCTGACCCAGCCCATCTGGGGCCTCCACCACTTGGAGTACCGAGCTCAGGACGCAGATGTCAGGGGCCTGACCACCCTGACCCCAGTGTCCGAGAGCAGCAAGGTCGTCGTGGTGGAGAGTGTCATGTGACAACTCAGCTCACATCACCAGCTCACCTCTGGTAGCCATAGCAGCCCCTGCTTCAGCCCCACCGCACCCCTCCAGGGGGCCTGCCTTTCCCTGACACTTTTGGGGTCTGCCTGGGGGAGGAGGGGAGAAAGCACCATGAGTGCTCACTAAAACAACTTTTTCCATTTTTAATAAAACGCCAAAAATATCACAACCCACCAAAAATAGATGCCTCTCCCCCTCCAGCCCTAGCCGAGCTGGTCCTAGGCCCCGCCTAGTGCCCCACCCCCACCCACAGTGCTGCACTCCTCCTGCCCCTGCCACGCCCACCCCCTGCCCACCTCTCCAGGCTCTGCTCTGCAGCACACCCGTGGGTGACCCCTCACCCCAGAAGCAGCAGTGGCAGCTTGGGAAATGTGAGGAAGGGAAGGAGGGAGAGACGGGAGGGAGGAGAGAGAGGAGAAGGGAGGCAGGGGAGGGGCAGCAGAACCAAGGCAAATATTTCAGCTGGGCTATACCCCTCTCCCCATCCCTGTTATAGAAGCTTAGAGAGCCAGCCAGCAATGGAACCTTCTGGTTCCTGCGCCAATCGCCACCAGTATCAATTGTGTGAGCTTGGGTGCGAGTGCACGCGTGCGTGAGTACGGAGAGTATATATAGATCTCTATCTCTTAGCAAAGGTGAATGCCAGATGTAAATGGCGCCTCTGGGCAAAGGAGGCTTGTATTTTGCACATTTTATAAAAACTTGAGAGAATGAGATTTCTGCTTGTATATTTCTAAAAAGAGGAAGGAGCCCAAACCATCCTCTCCTTACCACTCCCATCCCTGTGAGCCCTACCTTACCCCTCTGCCCCTAGCCAAGGAGTGTGAATTTATAGATCTAACTTTCATAGGCAAAACAAAAGCTTCGAGCTGTTGCGTGTGTGAGTCTGTTGTGTGGATGTGCGTGTGTGGTCCCCAGCCCCAGACTGGATTGGAAAAGTGCATGGTGGGGGCCTCGGGGCTGTCCCCACGCTGTCCCTTTGCCACAAGTCTGTGGGGCAAGAGGCTGCAATATTCCGTCCTGGGTGTCTGGGCTGCTAACCTGGCCTGCTCAGGCTTCCCACCCTGTGCGGGGCACACCCCCAGGAAGGGACCCTGGACACGGCTCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCGTGAGCAAGGCTCTGCTCTGGAGGCCTCTGCGGCCGGCACCCTTCTGGGGACTGGGAAGGGGGCAGGGAAGGCAGCAGCCCAGGGGAAGGCCTTGTCCCCCTGGAGCCGAGGCAGTTGGGGAGAGCAGGACGAGAGTGAGCTGGAGAGCAGCCACACCCGCGGGGAAGGGTGGGCGTAAAGCCATGGGTGCTGAAATTTTCAAAATGTTACCCCAAGAATTTGTCACTGAACAGGTGCCTTGTGTCACTTGGGCCAGGCTGG
|
benign
| 340,381 |
Considering the genetic mutation at chromosome X, position 153704069, impacting BCAP31 (B cell receptor associated protein 31): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
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pathogenic; ['Inborn_genetic_diseases', 'Severe_motor_and_intellectual_disabilities-sensorineural_deafness-dystonia_syndrome']
|
GCTCCTCCAGCAAGCGGTCGTACTCCTTGGTGAGGCCCTCAGACTGCTTCCGCATGGCCAGAACCTGGTTTTCAGCTTTCTCTAGTTCTTGAAATGATGTAAATGACCAAGAAAACAGAAACGAAAAGACAGGAATTAGGGGGAAAAAACCCGACTGCTACAGACACCAGAAACTGGCCCAAATCTATCTCAAACGAGGTTATACAGGAGGCTACTTCTCAAAATAAAGCCCCTCTGCTTTTGCAGGCCCCCAAAGTAGAGGGAAAGGGCTGACAAAAAAGCTCAAGATAAAGCAAAAGAAACACAGAGGCCATCCCCCAGTCCCTTTAATGGAGAGGAACTCTAGTGGCTCTCGGCAAGGGTAACCTCCAGGGAGGCTGAGAGTGGGAGACAGGGAGCAAGATCCCAGCCTGCAAGCGAGACCCAATGACAACCACGCCTTGCACACAGCAGCAGCAGGCGAGGCCTGTGGTATTGGGGGAAAACGCCCCAGACTTAAGTCTATGCGTGGGAGACCAAAGACAGGCAGGCCGCTTGGGAGCCGCCCACTCCCCTCCTGAACGCCACTCCCACACTCCCCTCATTCTCAGCCCCCAGGCATGCTGGGGCTACCGTGCCACACTCTGGACGGGAAAGCCCCAGCATGCACTGCTCTAGTGCAGGGCAATCGAGGCCCACCAACTGCAGCCTGGTTCCTCCTGAGCCCCATTCAAACCACTTAGCCTCACTGGCCTGCCGGCTAAGCATGGCTGCATTGGGGTTGGAGGCGCAGGGTGCTATTGGTCTGTTTTCAGCCAGCCCTCGAGCGTGCGTGCAAGGCTTGTTACTAATACTTTGGCACAAAATGGGCAGCAGCGGGCAGAGGAGGCTCCTCTGGACTTCCCTGCGGGGAAGGACACGAGGTCGAGCCTCACTTTGCTTAGTGCTGGCCAGCTCGTCCTTTAGCTTCTGCAGGTCAGCCTTCAGGCTCCTGTTCTCTTCCTCCAACTTCACCTCAGCATTCCCGACATCCAACTTGCCTCCGTCAACAGCAGCTCCCTGGGAAAAGTGCCAAAGGCCAGGGTTACTCAGGAGGGAGGGAGGGAGAGGTTCCAGCCCCATCCTCCCCACCGAGCTGCGGTTCCTCAAGCTGCCCTGGCCACACGCCCCTTCGGAAATGTCAACGCGGAACCGAGCCACCACTTGCTCCCAGCTCCTAGGCAAAGGCCAGGGCGTGGCTGCCCGCCGAGGGAAAGAGAAGCGCCAGCGGGGCCACCTGCTGCAGCTCGCCGGGCACGCCTTGCCTGCCCTGGCCCCTGGCCCCTGGCCCCTGGCCCTGCCTCCTTCCCAAGCAGCAGGGCTCAGCAGCTCCATGGTGCTCACCAACCCCTCCACAGATGGCGGTGCCTCGTGCTCCCTACATGGTGCCGCTCACTGCAGTTAGGAGCCCCCAGTCGGCCTGGCCAGCTCTATCCCACCTCTGCATCCACATCCCTCCGAGCTTGCCTTGCAGCTCACCTCCTGACGGGACGTCTAAGACTGGCCAACTACCCTGCCCCCACCTCCTCTCCAGCACTGAGGGATGCCACAGACCCCGAGTTCCAGAGGGGGTGCGGCAATCTTGCAGGGAACAAGGGCCTAGCTGAGGGCCTTCGGATCACAGCAGAGGGCCTGGCTCACTGAGGGGCCATTTTTCTCAGGGAAGGGTCTAACTGGAAGCAGTGGATGGAAACGAGAGCAGCAACACCCTCCTCCTCACCCGGACCCTCACACACAGACGCCTCCAGCAGGCATACTCTCCCCACTGAGGACTTCCCCTCTGCGCCTCCACCCAACTCTGGCTTTTCAGGCACATTTCCCAGCGTGACAGGCTAGCAGTGGCCACTGAGGCCCTGAAGAATGTGGCTCCCACAGTGTAACACCAGGACGCCCCATGGTGGGTCGGGAAGCTGGGCTCACCTTCTTGAGCTGGTCATTCTCCTCCATGTACTTCTTGGCCGCCTCACTAGCACTCTCCGCCTGCTTTTTAAAGGCTTCATTGGAGGCCAGCAGCGTGGCCTGCTGCGAAATGAGAGTCACCAGGCGTCTAAGCAGGCTGCAATTATTTACAAAAAGAAGGGAGAAGTGAGAAAAAGAGCATGAAGGGCTGGCAGGAGCACCTCCTGGTTGCTCCCACTCCACACCTAGCTCCAGCCTGGACCTGCCCTCTTGCCAAGGCAGCCGAGTGAGAAGCCGCCAACCTGGTGCTGGCAGCGTGAGGGAAAAGGTGGGGCCCAGGAGCCGTCCTCTGCCGCTGTGCCCAACGGCCACCCTCAGCTCTCAGAGGGGCTGGAAGCAGGAGCCTGGGGGGCTGGGAAGAGCCTCGCTACAGCATGAGGTCCCAGAACGCGGCACTTTCCGGGTCGGGGCCTAGACGTGCCAGACAAGCCACAGCACCACCTTCCTCCCTGCGAGGCTGGGCTTGCCTTGGTAAGGTAACGAGAGAAGCTAATCAATCCAAGCACTTCCAACATGCCAGGCCGCATCCTCACATCTACCTGATGAGGAAGTTACTATCACTGCCCCAGCTTATAGAAGAGGAAACTGAAGTTCAGCAGCGTAAATCAATGTACCCAAGGCCAAAAACCAGAAATGGACATGGCTGGAATTCCAAATTATGTCTGCCTGACTCCAGAACCTGAGCTCGGAACCACTCTGCTCTCTAAACTAACAGGGAACAGCTCCCAGGTCCCAACGTAAGATAGAACTCTCTTCTCTGGCCAGCCTCCTTCCCAACCCATCATGCAGGCTGCGCTGGAACACATCCGTTATGTAACAGCACCCCGAATGAGGTCTTCTTGGGCTGGAGGGTGTAGAGGAATCAGGACACAGGCGCAGGCTGCCTCTCTGAAGCAGCCAGGAGAGACAGGCAAACAGGTGGCAGCTGGAGGCAGATGCTAGTCCCCAAACAGAGATTGGAATGGCCACTTCATTTCCCTTGGTTCACCCTTGCCCCGAGATGTTAGCTGGCAGGAAGAGAGGAGGGAAGGACTCGTTCAAACAGTCAAAACAAGGCAGGGGTTCCTTTCTCACACACCTCAGAAGGCAAGGGTCACACAGGGCCTGGGGGAAGGAAGAGACAAATCTGCTTAGTCCAGAGTGCTTCAACAACAGCTTACTCAGAAGAGTCGAAGTGGCCTCCTGCCCCAGCCAGGCCTTCACACTTCACAGCCTCTGCTCATGGCCAGGGGCAGCCCGGAAGGGCTGGAGAAAGTAAAGAGCAGACAAGGTGAGCTACCTCCCTGGCCCAAGCCATGGCTCTCCAGGGCCTCGGCAGAGCCCCTTTCCAGATGTACTCAGGACAGAAAGTACCCACCCGGGCCAGGAGACACCCCTGAGGTTCCTGGTTTGGGGAGAGGCTCCCAGGGGCCCCTGGCAGCACCAGGAGAGCCAGGCCGTTGATTCCTGGCAGAGAAGGAGAGTTTCCAGTGACATGTGCTTTCTAAAATTAGCGGCCCAGGACCTCGTGGCCTAGGGCTCAGGTTTCCCTGCCTCAGCCCCCAGCTGCCCACCAGCCTGCCCCGCACTGGGCTACAGCCTGAAGGTGGAGGAAGCTACTGAGCGCCCTAGGAGCCAGAGAGAAACAATGCATCTGACTCACATCGGCATGGCCAGAAGTCAATGGAGAGGCCTAGAAAGAAAGGCAAGTCTGACTAAGACCCAGGCCCCCGGCAAGGAGCTGCCCAGCCCCAGAGCGGATCCCAGTGATGTAGAAAGAGGAAGAGGACCGCTCCTCCCAGCTGGAATTGAGGGGTGGGGGTCATGCCACCTGGTGGTAGAGAGAGGACCAAGCAAGACTGAAGGCTATACTCCCCGCCACCAGGCCAGGCAAGCGGCTGCTGGTGAGTGCCCATGGCTGTCACCCCAGTACCCAGGGAGATAGCTAACACAAATGCTTCCGCGGCAGTGCAGCAGAGGCCCAGCTCTTTTCGGACCGTCCCAGGCCCTTCCCGGCTATTGAGAACCAGGGCTTCCAAGATAGGCCAGGGCATACACAAAGTCCAGCGCAAGATCCACGCTGTGTGTGTCCGAAAGCCTGGCCCTGCTCAGCCCCAGCCCAGGCCTTCAGTTCCCAGCC
|
GCTCCTCCAGCAAGCGGTCGTACTCCTTGGTGAGGCCCTCAGACTGCTTCCGCATGGCCAGAACCTGGTTTTCAGCTTTCTCTAGTTCTTGAAATGATGTAAATGACCAAGAAAACAGAAACGAAAAGACAGGAATTAGGGGGAAAAAACCCGACTGCTACAGACACCAGAAACTGGCCCAAATCTATCTCAAACGAGGTTATACAGGAGGCTACTTCTCAAAATAAAGCCCCTCTGCTTTTGCAGGCCCCCAAAGTAGAGGGAAAGGGCTGACAAAAAAGCTCAAGATAAAGCAAAAGAAACACAGAGGCCATCCCCCAGTCCCTTTAATGGAGAGGAACTCTAGTGGCTCTCGGCAAGGGTAACCTCCAGGGAGGCTGAGAGTGGGAGACAGGGAGCAAGATCCCAGCCTGCAAGCGAGACCCAATGACAACCACGCCTTGCACACAGCAGCAGCAGGCGAGGCCTGTGGTATTGGGGGAAAACGCCCCAGACTTAAGTCTATGCGTGGGAGACCAAAGACAGGCAGGCCGCTTGGGAGCCGCCCACTCCCCTCCTGAACGCCACTCCCACACTCCCCTCATTCTCAGCCCCCAGGCATGCTGGGGCTACCGTGCCACACTCTGGACGGGAAAGCCCCAGCATGCACTGCTCTAGTGCAGGGCAATCGAGGCCCACCAACTGCAGCCTGGTTCCTCCTGAGCCCCATTCAAACCACTTAGCCTCACTGGCCTGCCGGCTAAGCATGGCTGCATTGGGGTTGGAGGCGCAGGGTGCTATTGGTCTGTTTTCAGCCAGCCCTCGAGCGTGCGTGCAAGGCTTGTTACTAATACTTTGGCACAAAATGGGCAGCAGCGGGCAGAGGAGGCTCCTCTGGACTTCCCTGCGGGGAAGGACACGAGGTCGAGCCTCACTTTGCTTAGTGCTGGCCAGCTCGTCCTTTAGCTTCTGCAGGTCAGCCTTCAGGCTCCTGTTCTCTTCCTCCAACTTCACCTCAGCATTCCCGACATCCAACTTGCCTCCGTCAACAGCAGCTCCCTGGGAAAAGTGCCAAAGGCCAGGGTTACTCAGGAGGGAGGGAGGGAGAGGTTCCAGCCCCATCCTCCCCACCGAGCTGCGGTTCCTCAAGCTGCCCTGGCCACACGCCCCTTCGGAAATGTCAACGCGGAACCGAGCCACCACTTGCTCCCAGCTCCTAGGCAAAGGCCAGGGCGTGGCTGCCCGCCGAGGGAAAGAGAAGCGCCAGCGGGGCCACCTGCTGCAGCTCGCCGGGCACGCCTTGCCTGCCCTGGCCCCTGGCCCCTGGCCCCTGGCCCTGCCTCCTTCCCAAGCAGCAGGGCTCAGCAGCTCCATGGTGCTCACCAACCCCTCCACAGATGGCGGTGCCTCGTGCTCCCTACATGGTGCCGCTCACTGCAGTTAGGAGCCCCCAGTCGGCCTGGCCAGCTCTATCCCACCTCTGCATCCACATCCCTCCGAGCTTGCCTTGCAGCTCACCTCCTGACGGGACGTCTAAGACTGGCCAACTACCCTGCCCCCACCTCCTCTCCAGCACTGAGGGATGCCACAGACCCCGAGTTCCAGAGGGGGTGCGGCAATCTTGCAGGGAACAAGGGCCTAGCTGAGGGCCTTCGGATCACAGCAGAGGGCCTGGCTCACTGAGGGGCCATTTTTCTCAGGGAAGGGTCTAACTGGAAGCAGTGGATGGAAACGAGAGCAGCAACACCCTCCTCCTCACCCGGACCCTCACACACAGACGCCTCCAGCAGGCATACTCTCCCCACTGAGGACTTCCCCTCTGCGCCTCCACCCAACTCTGGCTTTTCAGGCACATTTCCCAGCGTGACAGGCTAGCAGTGGCCACTGAGGCCCTGAAGAATGTGGCTCCCACAGTGTAACACCAGGACGCCCCATGGTGGGTCGGGAAGCTGGGCTCACCTTCTTGAGCTGGTCATTCTCCTCCATGTACTTCTTGGCCGCCTCACTAGCACTCTCCGCCTGCTTTTTAAAGGCTTCATTGGAGGCCAGCAGCGTGGCCTGCTGCGAAATGAGTCACCAGGCGTCTAAGCAGGCTGCAATTATTTACAAAAAGAAGGGAGAAGTGAGAAAAAGAGCATGAAGGGCTGGCAGGAGCACCTCCTGGTTGCTCCCACTCCACACCTAGCTCCAGCCTGGACCTGCCCTCTTGCCAAGGCAGCCGAGTGAGAAGCCGCCAACCTGGTGCTGGCAGCGTGAGGGAAAAGGTGGGGCCCAGGAGCCGTCCTCTGCCGCTGTGCCCAACGGCCACCCTCAGCTCTCAGAGGGGCTGGAAGCAGGAGCCTGGGGGGCTGGGAAGAGCCTCGCTACAGCATGAGGTCCCAGAACGCGGCACTTTCCGGGTCGGGGCCTAGACGTGCCAGACAAGCCACAGCACCACCTTCCTCCCTGCGAGGCTGGGCTTGCCTTGGTAAGGTAACGAGAGAAGCTAATCAATCCAAGCACTTCCAACATGCCAGGCCGCATCCTCACATCTACCTGATGAGGAAGTTACTATCACTGCCCCAGCTTATAGAAGAGGAAACTGAAGTTCAGCAGCGTAAATCAATGTACCCAAGGCCAAAAACCAGAAATGGACATGGCTGGAATTCCAAATTATGTCTGCCTGACTCCAGAACCTGAGCTCGGAACCACTCTGCTCTCTAAACTAACAGGGAACAGCTCCCAGGTCCCAACGTAAGATAGAACTCTCTTCTCTGGCCAGCCTCCTTCCCAACCCATCATGCAGGCTGCGCTGGAACACATCCGTTATGTAACAGCACCCCGAATGAGGTCTTCTTGGGCTGGAGGGTGTAGAGGAATCAGGACACAGGCGCAGGCTGCCTCTCTGAAGCAGCCAGGAGAGACAGGCAAACAGGTGGCAGCTGGAGGCAGATGCTAGTCCCCAAACAGAGATTGGAATGGCCACTTCATTTCCCTTGGTTCACCCTTGCCCCGAGATGTTAGCTGGCAGGAAGAGAGGAGGGAAGGACTCGTTCAAACAGTCAAAACAAGGCAGGGGTTCCTTTCTCACACACCTCAGAAGGCAAGGGTCACACAGGGCCTGGGGGAAGGAAGAGACAAATCTGCTTAGTCCAGAGTGCTTCAACAACAGCTTACTCAGAAGAGTCGAAGTGGCCTCCTGCCCCAGCCAGGCCTTCACACTTCACAGCCTCTGCTCATGGCCAGGGGCAGCCCGGAAGGGCTGGAGAAAGTAAAGAGCAGACAAGGTGAGCTACCTCCCTGGCCCAAGCCATGGCTCTCCAGGGCCTCGGCAGAGCCCCTTTCCAGATGTACTCAGGACAGAAAGTACCCACCCGGGCCAGGAGACACCCCTGAGGTTCCTGGTTTGGGGAGAGGCTCCCAGGGGCCCCTGGCAGCACCAGGAGAGCCAGGCCGTTGATTCCTGGCAGAGAAGGAGAGTTTCCAGTGACATGTGCTTTCTAAAATTAGCGGCCCAGGACCTCGTGGCCTAGGGCTCAGGTTTCCCTGCCTCAGCCCCCAGCTGCCCACCAGCCTGCCCCGCACTGGGCTACAGCCTGAAGGTGGAGGAAGCTACTGAGCGCCCTAGGAGCCAGAGAGAAACAATGCATCTGACTCACATCGGCATGGCCAGAAGTCAATGGAGAGGCCTAGAAAGAAAGGCAAGTCTGACTAAGACCCAGGCCCCCGGCAAGGAGCTGCCCAGCCCCAGAGCGGATCCCAGTGATGTAGAAAGAGGAAGAGGACCGCTCCTCCCAGCTGGAATTGAGGGGTGGGGGTCATGCCACCTGGTGGTAGAGAGAGGACCAAGCAAGACTGAAGGCTATACTCCCCGCCACCAGGCCAGGCAAGCGGCTGCTGGTGAGTGCCCATGGCTGTCACCCCAGTACCCAGGGAGATAGCTAACACAAATGCTTCCGCGGCAGTGCAGCAGAGGCCCAGCTCTTTTCGGACCGTCCCAGGCCCTTCCCGGCTATTGAGAACCAGGGCTTCCAAGATAGGCCAGGGCATACACAAAGTCCAGCGCAAGATCCACGCTGTGTGTGTCCGAAAGCCTGGCCCTGCTCAGCCCCAGCCCAGGCCTTCAGTTCCCAGCCNN
|
pathogenic
| 340,406 |
Subsets and Splits
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