Variant information



Systematic Name c.849C>G
Protein name p.Ala283Ala
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.849C>G p.Ala283Ala Silent TRD Silent polymorphism Male Not Rett synd. 1019