Variant information



Systematic Name c.962_1267delinsG
Protein name p.Lys321Serfs*13
Mutation type frameshift combined insertion and 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.962_1267delinsG p.Lys321Serfs*13 frameshift combined insertion and deletion C-term Mutation associated with disease Female Not Rett synd. 5133