Variant information


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

Proband information


Source of DNA Blood
Detection
Extent
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
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.::