The mutation is a C to T transition at codon 310, in exon 9, that is predicted to alter an arginine (CGT) to a cysteine (TGT)(R310C). (J:159597)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count