Variant information



Systematic Name c.1266C>T
Protein name p.Gly422Gly
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.1266C>T p.Gly422Gly Silent C-term Silent polymorphism Female Rett syndrome-Not certain 1911
2 c.1266C>T p.Gly422Gly silent C-term Silent polymorphism Female Not Rett synd. 2776
3 c.1266C>T p.Gly422Gly silent C-term Silent polymorphism Female Rett syndrome-not certain 4758
4 c.1266C>T p.Gly422Gly silent C-term Silent polymorphism Unknown Not Rett synd. 5221