PMID: 20154611

Adaptive genetic variation and heart disease risk.

Current opinion in lipidology
LD Parnell, YC Lee, CQ Lai
2010-04

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
2-21250758-T-C APOB c.2009A>G p.Glu670Gly Missense 14/29 -
1-55509552-CT-TA PCSK9 c.244_245delCTinsTA p.Leu82* Nonsense 2/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -