Variant information



Systematic Name c.1433G>A
Protein name p.Arg478Gln
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.1433G>A p.Arg478Gln missense C-term Polymorphism not causing disease Female Not Rett synd. 5225