The mutation is a C to T transition at codon 193, in exon 6, that is predicted to alter a proline (CCA) to a serine (TCA)(P193S). (J:159597)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count