Variant information



Systematic Name c.1206C>T
Protein name p.Pro402Pro
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.1206C>T p.Pro402Pro Silent C-term Silent polymorphism Female Not Rett synd. 2524
2 c.1206C>T p.Pro402Pro silent C-term Silent polymorphism Unknown Not Rett synd. 2657
3 c.1206C>T p.Pro402Pro silent C-term Silent polymorphism Female Not Rett synd. 2775
4 c.1206C>T p.Pro402Pro silent C-term Silent polymorphism Unknown Not Rett synd. 4609
5 c.1206C>T p.Pro402Pro silent C-term Silent polymorphism Female Rett syndrome-not certain 5216