Variant information

Systematic Name c.842_843insT
Protein name p.Glu282fs
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.842_843insT p.Glu282fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6634