Variant information



Systematic Name c.767_1175del409
Protein name p.Lys256Serfs*17
Mutation type frameshift insertion or deletion
Domain TRD-NLS, 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.767_1175del409 p.Lys256Serfs*17 frameshift insertion or deletion TRD-NLS, C-term Mutation associated with disease Female Rett syndrome-classical 5062