Variant information



Systematic Name c.1053C>G
Protein name p.Pro351Pro
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.1053C>G p.Pro351Pro silent C-term Silent polymorphism Male Not Rett synd. 5080