From: A rare immunological disease, caspase 8 deficiency: case report and literature review
Gene/transcript | Variation location | Variant | Chromosome position (GRCh37) | Relationships | Zygosity | Variation classificationa |
---|---|---|---|---|---|---|
CASP8, ENST00000358485.4 and NM_001080125 | Exon 9 | c.1572G > T, p.Q524H | Chr2:202,151,272 | Patient | Homozygous | Likely Pathogenic |
Father | Heterozygous | |||||
Mother | Heterozygous |