Variant information



Systematic Name c.777C>T
Protein name p.Ala259Ala
Mutation type Silent
Domain TRD-NLS
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.777C>T p.Ala259Ala Silent TRD-NLS Silent polymorphism Unknown Rett syndrome-Not certain 1374
2 c.777C>T p.Ala259Ala Silent TRD-NLS Silent polymorphism Unknown Rett syndrome-Not certain 1375
3 c.777C>T p.Ala259Ala Silent TRD-NLS Silent polymorphism Female Rett syndrome-Classical 1431
4 c.777C>T p.Ala259Ala Silent TRD-NLS Silent polymorphism Female Not Rett synd. 1846
5 c.777C>T p.Ala259Ala Silent TRD-NLS Silent polymorphism Female Rett syndrome-Not certain 1894
6 c.777C>T p.Ala259Ala silent TRD-NLS Silent polymorphism Female Not Rett synd. 4387