Variant information

Systematic Name c.439delG
Protein name p.Asp147fs
Mutation type Frameshift insertion or deletion
Domain MBD
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.439delG p.Asp147fs Frameshift insertion or deletion MBD Mutation associated with disease Unknown Rett syndrome-Not certain 254