Variant information

Systematic Name c.1415_1416delAG
Protein name p.Glu472fs
Mutation type frameshift insertion ord 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.1415_1416delAG p.Glu472fs frameshift insertion ord deletion C-term Mutation associated with disease Male Not Rett synd. 3019