PMC9885370_01
TNFAIP3 (chr6:138197151): NM_006290.3:c.653del:p.Leu218TrpfsTer10 sequencing results; red boxes are detection sites. In the picture, from top to bottom, are the first witness (A), the father of the first witness (B), and the mother of the first witness (C). The genetic test results indicate that the TNFAIP3 gene variant in this pediatric patient is from the father and is a heterozygous mutation.
fped-10-990008-g001.jpg
PMC9885370_01_fped-10-990008-g001.jpg
F1
TNFAIP3 gene. The downstream truncation variant of this variant is known to be pathogenic. The results are shown in the Figure 1.