Variant information

Systematic Name c.585C>T
Protein name p.Gly195Gly
Mutation type Silent
Domain Inter-domain region
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 Not checked
Carrier result
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.585C>T p.Gly195Gly Silent Inter-domain region Silent polymorphism Female Not Known 2136 :Cardiff, UK::