Variant information



Systematic Name uncertain
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 uncertain p.Ile314Ile Silent C-term Silent polymorphism Female Rett syndrome-Not certain 9