Variant information



Systematic Name c.1137C>T
Protein name p.Pro379Pro
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.1137C>T p.Pro379Pro Silent C-term Silent polymorphism Female Not Rett synd. 1572