PMID: 19656773

A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.

Human molecular genetics
RA Hegele, MR Ban, N Hsueh, BA Kennedy, H Cao, GY Zou, S Anand, S Yusuf, MW Huff, J Wang
2009-11-01

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
7-72877166-T-C BAZ1B c.3249+86A>G - IntronicSNV - 12/19
1-169564745-G-A SELP c.2101+418C>T - IntronicSNV - 12/16
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
19-11224107-CC-AA LDLR c.1340_1341delCCinsAA p.Ser447* Nonsense 9/18 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48