The mutation is a T to A transversion at codon 292, in exon 8, that is predicted to alter an isoleucine (ATC) to an asparagine (AAC)(I292N). (J:159597)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count