Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 MUTATION
PCSK9 MUTATION
PCSK9 p.Arg46Leu (p.R46L) ( ENST00000302118.5, ENST00000713786.1, ENST00000710286.1 )
PCSK9 p.Val474Ile (p.V474I) ( ENST00000713786.1, ENST00000673903.1, ENST00000710286.1, ENST00000302118.5 )
PCSK9 p.Gly670Glu (p.G670E) ( ENST00000673903.1, ENST00000710286.1, ENST00000713786.1, ENST00000302118.5 )
PCSK9 p.Arg46Leu (p.R46L) ( ENST00000302118.5, ENST00000710286.1, ENST00000713786.1 )
PCSK9 p.Val474Ile (p.V474I) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 )
PCSK9 p.Gly670Glu (p.G670E) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- Coronary heart disease
- Source Database
- DisGeNET
- Description
- In the present study, we have determined the relative frequency of the R46L, I474V and E670G variants in the PCSK9 (protein convertase subtilisin/kexin type 9) gene and its association with plasma lipid levels and CHD (coronary heart disease) in healthy U.K. men and patients with clinically defined definite FH (familial hypercholesterolaemia).
- Pubmed
- 17550346
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0251457431466092
- Year of publication
- 2007
Drugs