Variant information



Systematic Name c.1278C>T
Protein name p.Ser426Ser
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.1278C>T p.Ser426Ser silent C-term Silent polymorphism Female Rett syndrome-atypical 4079