The molecular lesion is a T to C transition at base pair 34,327,140 (v38) on chromosome 19 or base pair 36,482 in the GenBank genomic region NC_000085 encoding Fas. The mutation site corresponds to nucleotide 856 in the mRNA sequence NM_007987, within exon 9 of 9 total exons. Transcript variant 2 (NM_001146708) is not affected by the cherry mutation. The mutation results in a valine (V) to alanine (A) substitution at amino acid position 267 (V267A) in the Fas protein. (J:216052)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count