The mutation is an A to G transition at codon 131, in exon 5, that is predicted to replace asparagine (AAC) with serine (AGC)(N131S). (J:159597)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count