Variant information

Systematic Name uncertain
Protein name p.Ile314Ile
Mutation type Silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information

Source of DNA Blood
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 uncertain p.Ile314Ile Silent C-term Silent polymorphism Female Rett syndrome-Not certain 9 :Bunyan, D.::