Variant information



Systematic Name c.1180_1181insT
Protein name p.Glu394Valfs*11
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.1180_1181insT p.Glu394Valfs*11 frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 5110