Variant information

Systematic Name c.1450_1453delAGAG
Protein name p.Arg484fs
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.1450_1453delAGAG p.Arg484fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3746