Variant information



Systematic Name c.[1118_1300del183ins61];[1157_1197del41]
Protein name p.[Ser373fs];[Leu386fs]
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.[1118_1300del183ins61];[1157_1197del41] p.[Ser373fs];[Leu386fs] frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1117