PMID: 29020353

Differential effects of PCSK9 variants on risk of coronary disease and ischaemic stroke.

European heart journal
JC Hopewell, R Malik, E Valdés-Márquez, BB Worrall, R Collins,
2018-02-01

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
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 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -