Variant information



Systematic Name MECP2_e1: c.-7-?_62+?del
Protein name MeCP2_e1: p.M1?
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.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Female Rett syndrome-Not certain 1916
2 MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Female Rett syndrome-Atypical 2074
3 MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? large deletion N-term Mutation associated with disease Female Rett syndrome-classical 2759
4 MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-not certain 2929
5 MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? exonic deletions N-term Mutation associated with disease Female Rett syndrome-atypical 3768
6 MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? exonic deletions N-term Mutation associated with disease Female Rett syndrome-atypical 5136