PMID: 20031607

Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.

Circulation. Cardiovascular genetics
CC Huang, M Fornage, DM Lloyd-Jones, GS Wei, E Boerwinkle, K Liu
2009-08

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-21250758-T-C APOB c.2009A>G p.Glu670Gly Missense 14/29 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55518422-C-T PCSK9 c.757C>T p.Leu253Phe Missense 5/12 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -