Variant information



Systematic Name c.690A>C
Protein name p.Pro230Pro
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.690A>C p.Pro230Pro Silent TRD Silent polymorphism Female Not Known 2128
2 c.690A>C p.Pro230Pro Silent TRD Silent polymorphism Male Not Rett synd. 2129