Variant information



Systematic Name c.1335G>A
Protein name p.Thr445Thr
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.1335G>A p.Thr445Thr Silent C-term Silent polymorphism Female Not Rett synd. 414
2 c.1335G>A p.Thr445Thr Silent C-term Silent polymorphism Female Rett syndrome-Atypical 415
3 c.1335G>A p.Thr445Thr silent c-term Silent polymorphism Female Rett syndrome-Classical 2637
4 c.1335G>A p.Thr445Thr silent C-term Silent polymorphism Unknown Not Rett synd. 2672
5 c.1335G>A p.Thr445Thr silent C-term Silent polymorphism Female Not Rett synd. 2779
6 c.1335G>A p.Thr445Thr silent C-term Silent polymorphism Unknown Not Rett synd. 3998
7 c.1335G>A p.Thr445Thr silent C-term Silent polymorphism Unknown Not Rett synd. 3999
8 c.1335G>A p.Thr445Thr silent C-term Silent polymorphism Unknown Not Rett synd. 4635
9 c.1335G>A p.Thr445Thr silent C-term Silent polymorphism Unknown Not Rett synd. 5222
10 c.1335G>A p.Thr445Thr silent C-term Silent polymorphism Unknown Not Rett synd. 5223