Variant information



Systematic Name c.[881_1169del289; 1189_1196del8]
Protein name p.Arg294_Asp398delinsHisLeuSerProArgAla
Mutation type In-frame insertion or deletion, frameshift insertion or deletion
Domain TRD, 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.[881_1169del289; 1189_1196del8] p.Arg294_Asp398delinsHisLeuSerProArgAla In-frame insertion or deletion, frameshift insertion or deletion TRD, C-term Mutation associated with disease Unknown Rett syndrome-classical 1528