A rare immunological disease, caspase 8 deficiency: case report and literature review

Table 2 Genetic result of the patient

Gene/transcript	Variation location	Variant	Chromosome position (GRCh37)	Relationships	Zygosity	Variation classification^a
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

^aBased on American College of Genetics and Genomics (ACMG) standards and guidelines for the interpretation of sequence variants, 2015

ISSN: 1710-1492