Variant information



Systematic Name c.999G>T
Protein name p.Gly333Gly
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.999G>T p.Gly333Gly silent C-term Silent polymorphism Female Rett syndrome-not certain 4755