Variant information



Systematic Name c.840C>T
Protein name p.Ala280Ala
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.840C>T p.Ala280Ala Silent TRD Silent polymorphism Female Not Rett synd. 1234
2 c.840C>T p.Ala280Ala Silent TRD Silent polymorphism Female Rett syndrome-Not certain 1649
3 c.840C>T p.Ala280Ala silent TRD Silent polymorphism Unknown Not Rett synd. 4633
4 c.840C>T p.Ala280Ala silent TRD Silent polymorphism Unknown Not Rett synd. 4634