Variant information



Systematic Name c.[1121_1311del191; 1326_1334del9]
Protein name p.Glu374fs
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.[1121_1311del191; 1326_1334del9] p.Glu374fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 4708