Variant information

Systematic Name c.734_759del26
Protein name p.Val245fs
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.734_759del26 p.Val245fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 2887