Variant information



Systematic Name MECP2_e1: c.18_23dup
Protein name MeCP2_e1: p.A7_A8dup
Mutation type in-frame insertion or deletion
Domain N-term
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup In-frame insertion or deletion N-term Polymorphism not causing disease Female Rett syndrome-Atypical 2162
2 MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Rett syndrome-atypical 2758
3 MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Rett syndrome-classical 2912
4 MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 3987
5 MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Known 5113
6 MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Male Not Rett synd. 5114