Variant information



Systematic Name c.843C>T
Protein name p.Ala281Ala
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.843C>T p.Ala281Ala Silent TRD Silent polymorphism Female Rett syndrome-Not certain 1127
2 c.843C>T p.Ala281Ala Silent TRD Silent polymorphism Female Rett syndrome-Not certain 1900
3 c.843C>T p.Ala281Ala Silent TRD Silent polymorphism Female Not Known 2043
4 c.843C>T p.Ala281Ala silent TRD Silent polymorphism Unknown Not Rett synd. 4619
5 c.843C>T p.Ala281Ala silent TRD Silent polymorphism Unknown Not Rett synd. 5196