Variant information



Systematic Name c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7]
Protein name p.His371Glyfs*7
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.[1112_1116del; 1116_1137inv; 1138_1152del15ins7] p.His371Glyfs*7 frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-classical 4853