Variant information



Systematic Name c.1161C>T
Protein name p.Pro387Pro
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.1161C>T p.Pro387Pro silent C-term Silent polymorphism Female Rett syndrome-Classical 2636
2 c.1161C>T p.Pro387Pro silent C-term Silent polymorphism Female Rett syndrome-not certain 4756