Variant information



Systematic Name c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA]
Protein name p.Pro376fs
Mutation type Frameshift combined insertion and 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.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA] p.Pro376fs Frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1603