Variant information



Systematic Name c.820_823dupAGTG
Protein name p.Val275Glufs*57
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.820_823dupAGTG p.Val275Glufs*57 frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6747