Variant information



Systematic Name c.573C>T
Protein name p.Pro191Pro
Mutation type silent
Domain inter-domain region
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.573C>T p.Pro191Pro silent inter-domain region Silent polymorphism Male Not Rett synd. 3022