Variant information



Systematic Name c.720C>G
Protein name p.Thr240Thr
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.720C>G p.Thr240Thr Silent TRD Silent polymorphism Female Not Rett synd. 2395
2 c.720C>G p.Thr240Thr Silent TRD Silent polymorphism Female Not Rett synd. 2396