Variant information



Systematic Name c.591G>A
Protein name p.Thr197Thr
Mutation type Silent
Domain Inter-domain region
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.591G>A p.Thr197Thr Silent Inter-domain region Silent polymorphism Male Not Rett synd. 2375