Variant information



Systematic Name c.834C>T
Protein name
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.834C>T p.Ala278Ala Silent TRD Silent polymorphism Female Rett syndrome-Not certain 19
2 c.834C>T p.Ala278Ala Silent TRD Silent polymorphism Female Rett syndrome-Not certain 47
3 c.834C>T p.Ala278Ala Silent TRD Silent polymorphism Female Rett syndrome-Not certain 1593
4 c.834C>T p.Ala278Ala silent TRD Silent polymorphism Male Not Rett synd. 3026
5 c.834C>T p.Ala278Ala silent TRD Silent polymorphism Unknown Not Rett synd. 3920
6 c.834C>T p.Ala278Ala silent TRD Silent polymorphism Unknown Not Rett synd. 3996
7 c.834C>T silent TRD Silent polymorphism Female Rett syndrome-atypical 6859