Variant information

Systematic Name c.1190dupA
Protein name p.Asp398fs
Mutation type Frameshift insertion or deletion
Domain C-term
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.1190dupA p.Asp398fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-classical 1524