Variant information


Systematic Name c.1446C>T
Protein name p.Thr482Thr
Mutation type Silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA Blood
Detection Direct sequencing or DHPLC
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1446C>T p.Thr482Thr Silent C-term Silent polymorphism Female Rett syndrome-Not certain 1912 :::