Variant information



Systematic Name c.1437G>A
Protein name p.Thr479Thr
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1437G>A p.Thr479Thr silent C-term Silent polymorphism Female Rett syndrome-atypical 5061