Variant information

Systematic Name c.[777C>T(;)1157_1197del41]
Protein name p.[Ala259Ala(;)Leu386fs]
Mutation type Silent, frameshift insertion or deletion
Domain TRD-NLS, 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.[777C>T(;)1157_1197del41] p.[Ala259Ala(;)Leu386fs] Silent, frameshift insertion or deletion TRD-NLS, C-term Mutation associated with disease Female Rett syndrome-Not certain 1845