Variant information

Systematic Name c.766_779dup14
Protein name p.Asp260fs
Mutation type frameshift insertion or deletion
Domain TRD-NLS
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.766_779dup14 p.Asp260fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3380