Variant information



Systematic Name c.942C>T
Protein name p.Ile314Ile
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.942C>T p.Ile314Ile silent C-term Silent polymorphism Male Not Rett synd. 3027
2 c.942C>T p.Ile314Ile silent C-term Silent polymorphism Unknown Not Rett synd. 4617