## Transcript #00024031 (NM_001110792.1, MECP2 gene)

Transcript name transcript variant 2 MECP2 (methyl CpG binding protein 2 (Rett syndrome)) X NM_001110792.1 - NP_001104262.1 - - -

#### Variants

332 entries on 4 pages. Showing entries 1 - 100.
 « First ‹ Prev Next › Last » 10 per page 25 per page 50 per page 100 per page 250 per page 500 per page 1000 per page Legend How to query 1 2 3 4 Affects function Exon DNA change (cDNA) RNA change Protein
./. - c.-246784_*585012dup r.0? p.0?
?/? 1 c.-46_-45del r.(?) p.(=)
?/? 1 c.-27_-26del r.(?) p.(=)
?/? 1 c.-27_-26delinsTT r.(=) p.(=)
?/? 1 c(?_-7)_(62_?)del r.(?) p.(?)
?/? 1 c(?_-7)_(62_?)del r.(?) p.(?)
+/+ 1 c(?_-7)_(62_?)del r.(?) p.(?)
+/+ 1 c(?_-7)_(62_?)del r.(?) p.(?)
+/+ 1 c(?_-7)_(62_?)del r.(?) p.(?)
+/+ 1 c(?_-7)_(62_?)del r.(?) p.(?)
+/. - c.1A>G r.(?) p.0?
?/? 1 c.1A>G r.(?) p.(Met1?)
?/? 1 c.1A>T r.(?) p.(Met1?)
+/. - c.5C>T r.(?) p.(Ala2Val)
+/. - c.5C>T r.(?) p.(Ala2Val)
?/? 1 c.5C>T r.(?) p.(Ala2Val)
?/? 1 c.5C>T r.(?) p.(Ala2Val)
?/? 1 c.15_23dup r.(?) p.(Ala6_Ala8dup)
?/? 1 c.15_23dup r.(?) p.(Ala6_Ala8dup)
?/? 1 c.18_23del r.(?) p.(Ala7_Ala8del)
-/- 1 c.18_23dup r.(?) p.(Ala7_Ala8dup)
-/- 1 c.18_23dup r.(?) p.(Ala7_Ala8dup)
-/- 1 c.18_23dup r.(?) p.(Ala7_Ala8dup)
-/- 1 c.18_23dup r.(?) p.(Ala7_Ala8dup)
-/- 1 c.18_23dup r.(?) p.(Ala7_Ala8dup)
-/- 1 c.18_23dup r.(?) p.(Ala7_Ala8dup)
+?/. 1 c.21del r.(?) p.(Ala8Argfs*36)
-?/. - c.21_23del r.(?) p.(Ala8del)
?/. - c.21_23dup r.(?) p.(Ala8dup)
?/. - c.21_23dup r.(?) p.(Ala8dup)
?/? 1 c.21_23dup r.(?) p.(Ala8dup)
+/+ 1 c.23_27dup r.(?) p.(Ser10Argfs*36)
+/+ 1 c.30delinsGA r.(?) p.(Ser10Argfs*32)
?/? 1 c.42_47dup r.(?) p.(Gly15_Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
-/- 1 c.45_47dup r.(?) p.(Gly16dup)
?/. - c.47_49dup r.(?) p.(Gly16dup)
?/. - c.47_49dup r.(?) p.(Gly16dup)
+/+ 1 c.47_57del r.(?) p.(Gly16Glufs*22)
+/+ 1 c.47_57del r.(?) p.(Gly16Glufs*22)
+/+ 1 c.47_57del r.(?) p.(Gly16Glufs*22)
+/+ 1 c.47_57del r.(?) p.(Gly16Glufs*22)
+/+ 1 c.47_57del r.(?) p.(Gly16Glufs*22)
+/+ 1 c.47_57del r.(?) p.(Gly16Glufs*22)
+/+ 1 c.47_57del r.(?) p.(Gly16Glufs*22)
+/+ 1 c.48C>T r.(=) p.(=)
+/+ 1 c.48_55del r.(?) p.(Glu18Thrfs*21)
+/+ 1 c.48_55dup r.(?) p.(Glu19Alafs*28)
?/? 0 c.49G>A r.(=) p.(Glu17Lys)
+/+ 3 c.59_60del r.(?) p.(Arg20Thrfs*21)
?/? 1i c.62+1G>A r.(=) p.(=)
+/+ 1i c.62+2_62+3del r.(=) p.(=)
+/+ 1i c.62+2_62+3del r.(=) p.(=)
+/+ 1i c.62+2_62+3del r.(=) p.(=)
?/. 1i c.62+2_62+3del r.spl? p.?
+?/. 1i c.62+2_62+3del r.spl? p.?
-/. - c.62+5446del r.(=) p.(=)
-/. - c.62+5446del r.(=) p.(=)
./. - c.62+5447del r.(=) p.(=)
./. - c.62+5447del r.(=) p.(=)
./. - c.62+5486dup r.(=) p.(=)
?/. - c.76G>C r.(?) p.(Glu26Gln)
+/. - c.125del r.(?) p.(Lys42Argfs*2)
-?/. - c.156G>A r.(?) p.(Glu52=)
?/. - c.158G>T r.(?) p.(Gly53Val)
-?/. - c.164A>G r.(?) p.(His55Arg)
-?/. - c.191A>G r.(?) p.(His64Arg)
+/. - c.245_255del r.(?) p.(Ser82CysfsTer17)
-/. - c.246C>T r.(?) p.(Ser82=)
?/. - c.284A>G r.(?) p.(Gln95Arg)
+?/. - c.301C>T r.(?) p.(Arg101Cys)
+?/. - c.313C>T r.(?) p.(Pro105Ser)
+/. - c.352C>T r.(?) p.(Arg118Trp)
+/. - c.352C>T r.(?) p.(Arg118Trp)
+/. - c.352C>T r.(?) p.(Arg118Trp)
+/. - c.353G>A r.(?) p.(Arg118Gln)
+/. - c.354_357dup r.(?) p.(Leu120Glufs*3)
?/. - c.379C>T r.(?) p.(Arg127Cys)
+?/. - c.389G>A r.(?) p.(Gly130Glu)
+?/. - c.389G>A r.(?) p.(Gly130Glu)
-?/. - c.411C>A r.(?) p.(Ile137=)
-?/. - c.411C>A r.(?) p.(Ile137=)
-?/. - c.413+14A>G r.(=) p.(=)
-/. - c.413+22C>G r.(=) p.(=)
./. - c.413+266T>C r.(=) p.(=)
./. - c.413+266T>C r.(=) p.(=)
-/. - c.414-109A>G r.(=) p.(=)
-?/. - c.414-17del r.(=) p.(=)
-/. - c.414-17del r.(=) p.(=)
 « First ‹ Prev Next › Last » 10 per page 25 per page 50 per page 100 per page 250 per page 500 per page 1000 per page Legend How to query 1 2 3 4
{"ft_lang_label":"__label__en","ft_lang_prob":0.5702003,"math_prob":0.991955,"size":344,"snap":"2021-43-2021-49","text_gpt3_token_len":123,"char_repetition_ratio":0.1882353,"word_repetition_ratio":0.083333336,"special_character_ratio":0.39534885,"punctuation_ratio":0.083333336,"nsfw_num_words":0,"has_unicode_error":false,"math_prob_llama3":0.992419,"pos_list":[0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22],"im_url_duplicate_count":[null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null],"WARC_HEADER":"{\"WARC-Type\":\"response\",\"WARC-Date\":\"2021-10-18T01:02:43Z\",\"WARC-Record-ID\":\"<urn:uuid:a907bfa0-08b4-47e7-9de6-fb7e3a684013>\",\"Content-Length\":\"84042\",\"Content-Type\":\"application/http; msgtype=response\",\"WARC-Warcinfo-ID\":\"<urn:uuid:488c16b8-37c7-49a3-bb8d-d59955045a4e>\",\"WARC-Concurrent-To\":\"<urn:uuid:948b72ba-d92d-46ec-8bcc-c6f4af387e89>\",\"WARC-IP-Address\":\"145.88.210.19\",\"WARC-Target-URI\":\"https://databases.lovd.nl/shared/transcripts/00024031\",\"WARC-Payload-Digest\":\"sha1:GIANIKP3AHHF6K2GECKVMBYNI5O4T4JI\",\"WARC-Block-Digest\":\"sha1:MDFUF2SSVVNUXCXLVYYHPVAW5LGCE4XW\",\"WARC-Identified-Payload-Type\":\"text/html\",\"warc_filename\":\"/cc_download/warc_2021/CC-MAIN-2021-43/CC-MAIN-2021-43_segments_1634323585186.33_warc_CC-MAIN-20211018000838-20211018030838-00526.warc.gz\"}"}