Variant information



Systematic Name c.1284C>T
Protein name p.Gly428Gly
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1284C>T p.Gly428Gly silent C-term Silent polymorphism Female Rett syndrome-classical 3816