Variant information



Systematic Name MECP2_e1:c.-235G>T
Protein name
Mutation type Missense
Domain 5'UTR
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.-235G>T Missense 5'UTR Polymorphism not causing disease Female Not Rett synd. 6839