Variant information



Systematic Name MECP2_e1: c.1225G>A
Protein name
Mutation type missense
Domain C-term
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.1225G>A missense C-term Polymorphism not causing disease Female Not Rett synd. 6905