Variant information



Systematic Name c.881G>C
Protein name p.Arg294Pro
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.881G>C p.Arg294Pro Missense TRD Polymorphism not causing disease Female Rett syndrome-Not certain 1903
2 c.881G>C p.Arg294Pro Missense TRD Polymorphism not causing disease Male Not Rett synd. 1904