Variant information



Systematic Name MECP2_e1: c.47_57dup11
Protein name MeCP2_e1: p.R20Afs*28
Mutation type frameshift insertion or deletion
Domain exon 1
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.47_57dup11 MeCP2_e1: p.R20Afs*28 frameshift insertion or deletion exon 1 Mutation associated with disease Female Rett syndrome-classical 6624