The mutation is a T to A transversion at codon 68, in exon 4, that is predicted to alter a valine (GTC) to an aspartic acid (GAC)(V68D). (J:159597)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count