Variant information

Systematic Name c.819delG
Protein name p.Ser274fs
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.819delG p.Ser274fs frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 4105