Variant information



Systematic Name c.1197C>T
Protein name
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.1197C>T p.Pro399Pro Silent C-term Silent polymorphism Unknown Rett syndrome-Not certain 1008
2 c.1197C>T p.Pro399Pro Silent C-term Silent polymorphism Male Not Rett synd. 1577
3 c.1197C>T p.Pro399Pro Silent C-term Silent polymorphism Female Rett syndrome-Classical 2417
4 c.1197C>T p.Pro399Pro silent C-term Silent polymorphism Unknown Not Rett synd. 2668
5 c.1197C>T p.Pro399Pro silent C-term Silent polymorphism Unknown Not Rett synd. 2669
6 c.1197C>T p.Pro399Pro silent C-term Silent polymorphism Female Not Rett synd. 4820
7 c.1197C>T p.Pro399Pro silent C-term Silent polymorphism Unknown Not Rett synd. 5215
8 c.1197C>T silent C-term Silent polymorphism Female Not Rett synd. 6868