Variant information



Systematic Name c.1215C>T
Protein name p.Pro405Pro
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.1215C>T p.Pro405Pro Silent C-term Silent polymorphism Female Not Rett synd. 2149
2 c.1215C>T p.Pro405Pro Silent C-term Silent polymorphism Female Not Rett synd. 2150
3 c.1215C>T p.Pro405Pro Silent C-term Silent polymorphism Male Not Rett synd. 2151