Variant information



Systematic Name c.857_858dupAA
Protein name p.Ala287Lysfs*3
Mutation type frameshift insertion or deletion
Domain TRD
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.857_858dupAA p.Ala287Lysfs*3 frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6748