Variant information



Systematic Name c.[1053_1054ins10; 1145_1199del55]
Protein name p.Lys352fs
Mutation type in-frame 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.[1053_1054ins10; 1145_1199del55] p.Lys352fs in-frame combined insertion and deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 855