Variant information



Systematic Name MECP2_e1: c.15_23del9
Protein name MeCP2_e1: p.A6_A8del
Mutation type in-frame insertion or deletion
Domain exon 1
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.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Female Not Rett synd. 6627
2 MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Female Rett syndrome-classical 6626