Variant information



Systematic Name c.168C>T
Protein name p.Pro56Pro
Mutation type Silent
Domain N-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.168C>T p.Pro56Pro Silent N-term Silent polymorphism Unknown Rett syndrome-Not certain 147
2 c.168C>T p.Pro56Pro Silent N-term Silent polymorphism Male Not Known 1794
3 c.168C>T p.Pro56Pro Silent N-term Silent polymorphism Male Not Known 2140