Variant information



Systematic Name c.869_880delinsCACA
Protein name p.Glu290Alafs*38
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.869_880delinsCACA p.Glu290Alafs*38 frameshift combined insertion and deletion TRD, C-term Mutation associated with disease Female Rett syndrome-classical 5060