Variant information


Systematic Name c.1239C>T
Protein name p.Cys413Cys
Mutation type Silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA Blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Father has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1239C>T p.Cys413Cys Silent C-term Silent polymorphism Female Not Known 2061 :::
2 c.1239C>T p.Cys413Cys Silent C-term Silent polymorphism Male Not Rett synd. 2062 :::