Variant information


Systematic Name c.474G>A
Protein name p.Thr158Thr
Mutation type Silent
Domain MBD
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 c.474G>A p.Thr158Thr Silent MBD Silent polymorphism Female Rett syndrome-Not certain 15 :Bunyan, D.::
2 c.474G>A p.Thr158Thr Silent MBD Silent polymorphism Female Not Known 2160 :Cardiff, UK::
3 c.474G>A p.Thr158Thr Silent MBD Silent polymorphism Male Not Rett synd. 2161 :Cardiff, UK::