Variant information



Systematic Name c.749G>A
Protein name p.Arg250His
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.749G>A p.Arg250His Missense TRD Polymorphism not causing disease Female Rett syndrome-Not certain 1852
2 c.749G>A p.Arg250His Missense TRD Polymorphism not causing disease Male Not Rett synd. 1853