PMID: 19351729

Genetic and metabolic determinants of plasma PCSK9 levels.

The Journal of clinical endocrinology and metabolism
SG Lakoski, TA Lagace, JC Cohen, JD Horton, HH Hobbs
2009-07

7 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
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 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -