Variant information



Systematic Name MECP2_e1: c.21_23dup3
Protein name MeCP2_e1: p.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.21_23dup3 MeCP2_e1: p.A8dup In-frame insertion or deletion N-term Unknown Female Not Known 2163