Variant information



Systematic Name c.633G>C
Protein name p.Arg211Ser
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.633G>C p.Arg211Ser Missense TRD Polymorphism not causing disease Female Rett syndrome-Classical 2134
2 c.633G>C p.Arg211Ser Missense TRD Polymorphism not causing disease Male Not Rett synd. 2135
3 c.633G>C p.Arg211Ser missense TRD Polymorphism not causing disease Unknown Not Rett synd. 5189