Variant information

Systematic Name c.830delC
Protein name p.Ala277fs
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.830delC p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 2882