Variant information



Systematic Name c.1065C>T
Protein name p.Ser355Ser
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.1065C>T p.Ser355Ser Silent C-term Silent polymorphism Female Rett syndrome-Not certain 24