Variant information

Systematic Name c.715delG
Protein name p.Ala239fs
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.715delG p.Ala239fs Frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 1787