Variant information



Systematic Name MECP2_e1: c.15_23dup9
Protein name MeCP2_e1: p.A6_A8dup
Mutation type in-frame insertion or deletion
Domain N-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Female Not Rett synd. 2554
2 MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Female Not Rett synd. 2555