Variant information


Systematic Name c.1065C>T
Protein name p.Ser355Ser
Mutation type Silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA Blood
Detection
Extent
Evidence of Pathogenicity
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 c.1065C>T p.Ser355Ser Silent C-term Silent polymorphism Female Rett syndrome-Not certain 24 :Bunyan, D.::