Variant information



Systematic Name c.984C>T
Protein name p.Leu328Leu
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.984C>T p.Leu328Leu Silent C-term Silent polymorphism Female Rett syndrome-Classical 351
2 c.984C>T p.Leu328Leu Silent C-term Silent polymorphism Female Not Rett synd. 474
3 c.984C>T p.Leu328Leu Silent C-term Silent polymorphism Female Rett syndrome-Not certain 1128
4 c.984C>T p.Leu328Leu silent C-term Silent polymorphism Female Rett syndrome-atypical 4863
5 c.984C>T p.Leu328Leu silent C-term Silent polymorphism Unknown Not Rett synd. 5207
6 c.984C>T p.Leu328Leu silent C-term Silent polymorphism Unknown Not Rett synd. 5208