Variant information



Systematic Name c.1265_1289del25insAGCGGCCG
Protein name p.Gly422fs
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.1265_1289del25insAGCGGCCG p.Gly422fs Frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1824