Variant information



Systematic Name MECP2_e1: c.18_23del6
Protein name MeCP2_e1: p.A7_A8del
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.18_23del6 MeCP2_e1: p.A7_A8del in-frame insertion or deletion N-term Unknown Female Not Rett synd. 2556