Variant information



Systematic Name MECP2_e1: c.48_55dup
Protein name MeCP2_e1: p.G19Afs*28
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.48_55dup MeCP2_e1: p.G19Afs*28 frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-classical 2756