Variant information



Systematic Name c.1326C>T
Protein name p.Thr442Thr
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.1326C>T p.Thr442Thr Silent C-term Silent polymorphism Female Not Rett synd. 150
2 c.1326C>T p.Thr442Thr Silent C-term Silent polymorphism Female Rett syndrome-Classical 1210
3 c.1326C>T p.Thr442Thr silent C-term Silent polymorphism Female Rett syndrome-classical 2830
4 c.1326C>T p.Thr442Thr silent C-term Silent polymorphism Female Rett syndrome-atypical 4864