Variant information



Systematic Name c.666C>G
Protein name p.Val222Val
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.666C>G p.Val222Val Silent TRD Silent polymorphism Female Rett syndrome-Preserved speech 2421
2 c.666C>G p.Val222Val Silent TRD Silent polymorphism Male Not Rett synd. 2520
3 c.666C>G p.Val222Val silent TRD Silent polymorphism Female Rett syndrome-not certain 4274