PMID: 30645169

Variation in Serum PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9), Cardiovascular Disease Risk, and an Investigation of Potential Unanticipated Effects of PCSK9 Inhibition.

Circulation. Genomic and precision medicine

Brumpton, Ben M BM, Fritsche, Lars G LG, Zheng, Jie J, Nielsen, Jonas Bille JB, Mannila, Maria M, Surakka, Ida I, Rasheed, Humaira H, Vie, Gunnhild Åberge GÅ, Graham, Sarah E SE, Gabrielsen, Maiken Elvestad ME, Laugsand, Lars Erik LE, Aukrust, Pål P, Vatten, Lars Johan LJ, Damås, Jan Kristian JK, Ueland, Thor T, Janszky, Imre I, Zwart, John-Anker JA, Van't Hooft, Ferdinand M FM, Seidah, Nabil Georges NG, Hveem, Kristian K, Willer, Cristen C, Smith, George Davey GD, Åsvold, Bjørn Olav BO, ,

2019-01

8 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
20-17457654-G-A	PCSK2	c.1431-4575G>A	-	IntronicSNV	-	11/11
5-74648496-G-T	HMGCR	c.1368+1069G>T	-	IntronicSNV	-	11/19
5-74641707-G-A	HMGCR	c.450+224G>A	-	IntronicSNV	-	5/19
5-74656175-G-A	HMGCR	c.*8G>A	-	3-UTRSNV	20/20	-
1-55513061-T-C	PCSK9	c.523+742T>C	-	IntronicSNV	-	3/11
1-55519174-G-A	PCSK9	c.799+710G>A	-	IntronicSNV	-	5/11
1-55519174-G-C	PCSK9	c.799+710G>C	-	IntronicSNV	-	5/11
1-55518752-C-T	PCSK9	c.799+288C>T	-	IntronicSNV	-	5/11