Variant information



Systematic Name c.[1089_1129del41;1156_1197del42]
Protein name p.Lys364Glyfs*13
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.[1089_1129del41;1156_1197del42] p.Lys364Glyfs*13 frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 5245