Variant information



Systematic Name MECP2_e1: c.18_23dup6
Protein name
Mutation type in-frame insertion or deletion
Domain 5'UTR
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_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Female Not Rett synd. 6844
2 MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Female Not Rett synd. 6843
3 MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Female Rett syndrome-atypical 6842
4 MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Female Rett syndrome-atypical 6841
5 MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Male Not Rett synd. 6840