Variant information



Systematic Name MECP2_e1: c.42_47dupAGGAGG
Protein name MeCP2_e1: p.G15_G16dup
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.42_47dupAGGAGG MeCP2_e1: p.G15_G16dup in-frame insertion or deletion N-term Unknown Female Rett syndrome-not certain 3595