The mutation is a T to C transition at codon 182, in exon 6, that is predicted to alter an isoleucine (ATT) to a threonine (ACT)(I182T). (J:159597)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count