Variant information



Systematic Name c.1372C>T
Protein name p.Arg458Cys
Mutation type Missense
Domain C-term
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.1372C>T p.Arg458Cys Missense C-term Polymorphism not causing disease Female Not Known 2143
2 c.1372C>T p.Arg458Cys Missense C-term Polymorphism not causing disease Male Not Rett synd. 2144