Variant information



Systematic Name c.948C>G
Protein name p.Val316Val
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.948C>G p.Val316Val Silent C-term Silent polymorphism Female Not Known 2131
2 c.948C>G p.Val316Val silent C-term Silent polymorphism Female Not Rett synd. 2773
3 c.948C>G p.Val316Val silent C-term Silent polymorphism Unknown Not Rett synd. 3997