Variant information



Systematic Name c.474G>A
Protein name p.Thr158Thr
Mutation type Silent
Domain MBD
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.474G>A p.Thr158Thr Silent MBD Silent polymorphism Female Rett syndrome-Not certain 15
2 c.474G>A p.Thr158Thr Silent MBD Silent polymorphism Female Not Known 2160
3 c.474G>A p.Thr158Thr Silent MBD Silent polymorphism Male Not Rett synd. 2161