Variant information



Systematic Name c.1373G>A
Protein name p.Arg458His
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.1373G>A p.Arg458His missense c-term Polymorphism not causing disease Male Not Rett synd. 3876