Variant information



Systematic Name c.867_1223delinsA
Protein name p.Ser291Glnfs*26
Mutation type frameshift combined insertion and 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.867_1223delinsA p.Ser291Glnfs*26 frameshift combined insertion and deletion TRD, C-term Mutation associated with disease Female Rett syndrome-classical 4878