PMID: 20699424

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population.

Journal of lipid research

I Guella, R Asselta, D Ardissino, PA Merlini, F Peyvandi, S Kathiresan, PM Mannucci, M Tubaro, S Duga

2010-11

15 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55514073-C-G	PCSK9	c.523+1754C>G	-	IntronicSNV	-	3/11
1-55518682-C-T	PCSK9	c.799+218C>T	-	IntronicSNV	-	5/11
1-55513061-T-C	PCSK9	c.523+742T>C	-	IntronicSNV	-	3/11
1-55532742-G-T	USP24	c.*1976C>A	-	3-UTRSNV	68/68	-
1-55529215-C-A	PCSK9	c.2037C>A	p.Cys679*	Nonsense	12/12	-
1-55527479-A-G	PCSK9	c.1863+250A>G	-	IntronicSNV	-	11/11
1-55529187-G-A	PCSK9	c.2009G>A	p.Gly670Glu	Missense	12/12	-
1-55524842-G-A	PCSK9	c.1504-317G>A	-	IntronicSNV	-	9/11
1-55512222-C-G	PCSK9	c.426C>G	p.Tyr142*	Nonsense	3/12	-
1-55541896-T-C	USP24	c.7381-700A>G	-	IntronicSNV	-	62/67
1-55518752-C-T	PCSK9	c.799+288C>T	-	IntronicSNV	-	5/11
1-55532742-G-C	USP24	c.*1976C>G	-	3-UTRSNV	68/68	-
1-55521109-G-C	PCSK9	c.800-557G>C	-	IntronicSNV	-	5/11
1-55521109-G-A	PCSK9	c.800-557G>A	-	IntronicSNV	-	5/11
1-55518467-A-G	PCSK9	c.799+3A>G	-	IntronicSNV	-	5/11