Variant information

Systematic Name c.506_507dupAG
Protein name p.Gln170fs
Mutation type frameshift insertion or deletion
Domain Inter-domain
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.506_507dupAG p.Gln170fs frameshift insertion or deletion Inter-domain Mutation associated with disease Male Not Rett synd. 6638