Variant information

Systematic Name MECP2_e1: c.23_27dupCGCCG
Protein name MeCP2_e1: p.S10Rfs*37
Mutation type frameshift insertion or deletion
Domain N-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 MECP2_e1: c.23_27dupCGCCG MeCP2_e1: p.S10Rfs*37 frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-classical 2802