PMID: 18566665

Common and rare gene variants affecting plasma LDL cholesterol.

The Clinical biochemist. Reviews
JR Burnett, AJ Hooper
2008-02

10 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
7-44578607-GCG-TGG NPC1L1 c.1387_1389delCGCinsTGG p.Arg463Trp Missense 2/20 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55523802-A-G PCSK9 c.1274A>G p.Asn425Ser Missense 8/12 -
4-100529984-G-A MTTP c.1619G>A p.Arg540His Missense 13/19 -
4-100540150-G-A MTTP c.2237G>A p.Gly746Glu Missense 17/19 -
1-55509694-A-G PCSK9 c.386A>G p.Asp129Gly Missense 2/12 -