Variant information



Systematic Name c.1176G>A
Protein name p.Glu392Glu
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.1176G>A p.Glu392Glu Silent C-term Silent polymorphism Female Rett syndrome-Classical 1218