Variant information



Systematic Name c.1239C>T
Protein name p.Cys413Cys
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.1239C>T p.Cys413Cys Silent C-term Silent polymorphism Female Not Known 2061
2 c.1239C>T p.Cys413Cys Silent C-term Silent polymorphism Male Not Rett synd. 2062