Variant information



Systematic Name c.[1158_1167del10; 1173_1188del16]
Protein name p.Pro387Hisfs*9
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[1158_1167del10; 1173_1188del16] p.Pro387Hisfs*9 frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3010