Variant information

Systematic Name c.739delG
Protein name p.Val247fs
Mutation type Frameshift insertion or deletion
Domain TRD
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.739delG p.Val247fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 1930