Variant information



Systematic Name MECP2_e1: c.45_47dupAGG
Protein name MeCP2_e1: p.G16dup
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.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Female Not Known 2004
2 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2005
3 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Male Not Rett synd. 2006
4 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2557
5 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2558
6 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2559
7 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2560
8 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2561
9 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 2562
10 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 3915
11 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 3916
12 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 3917
13 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 4822
14 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 6345
15 MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Female Rett syndrome-classical 6344
16 MECP2_e1: c.45_47dupAGG in-frame insertion or deletion N-term Polymorphism not causing disease Female Not Rett synd. 6845