Variant information

Systematic Name c.690A>C
Protein name p.Pro230Pro
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism

Proband information

Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
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 :Cardiff, UK::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.690A>C p.Pro230Pro Silent TRD Silent polymorphism Female Not Known 2128 :Cardiff, UK::
2 c.690A>C p.Pro230Pro Silent TRD Silent polymorphism Male Not Rett synd. 2129 :Cardiff, UK::