Variant ID: 11-116701613-G-T

NM_000040.1(APOC3):c.179+1G>T

This variant was identified in 7 publications




Publications:


Remnant-Like Particle Cholesterol, Low-Density Lipoprotein Triglycerides, and Incident Cardiovascular Disease.

Journal Of The American College Of Cardiology
A Saeed, EV Feofanova, B Yu, W Sun, SS Virani, V Nambi, J Coresh, CS Guild, E Boerwinkle, CM Ballantyne, RC Hoogeveen
Publication Date: 2018-07-10

Variant appearance in text: rs140621530
PubMed Link: 29976289
Variant Present in the following documents:
  • Main text
View BVdb publication page



A human APOC3 missense variant and monoclonal antibody accelerate apoC-III clearance and lower triglyceride-rich lipoprotein levels.

Nature Medicine
SA Khetarpal, X Zeng, JS Millar, C Vitali, AVH Somasundara, P Zanoni, JA Landro, N Barucci, WJ Zavadoski, Z Sun, H de Haard, IV Toth, GM Peloso, P Natarajan, M Cuchel, S Lund-Katz, MC Phillips, AR Tall, S Kathiresan, P DaSilva-Jardine, NA Yates, DJ Rader
Publication Date: 2017-09

Variant appearance in text: rs140621530
PubMed Link: 28825717
Variant Present in the following documents:
  • NIHMS915479-supplement-Supplementary_Figures_and_Tables.pdf
View BVdb publication page



Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

Circulation. Cardiovascular Genetics
GM Peloso, LA Lange, TV Varga, DA Nickerson, JD Smith, ME Griswold, S Musani, LM Polfus, H Mei, S Gabriel, RC Quarells, D Altshuler, E Boerwinkle, MJ Daly, B Neale, A Correa, AP Reiner, JG Wilson, S Kathiresan
Publication Date: 2016-08

Variant appearance in text: APOC3: 179+1G>T
PubMed Link: 27422940
Variant Present in the following documents:
  • NIHMS803853-supplement-001410_-_Supplemental_Material.pdf
View BVdb publication page



Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation.

Human Molecular Genetics
A Gilly, GR Ritchie, L Southam, AE Farmaki, E Tsafantakis, G Dedoussis, E Zeggini
Publication Date: 2016-06-01

Variant appearance in text: rs140621530
PubMed Link: 27146844
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipoprotein associated phospholipase A2 activity, apolipoprotein C3 loss-of-function variants and cardiovascular disease: The Atherosclerosis Risk In Communities Study.

Atherosclerosis
Y Pokharel, W Sun, LM Polfus, AR Folsom, G Heiss, AR Sharrett, E Boerwinkle, CM Ballantyne, RC Hoogeveen
Publication Date: 2015-08

Variant appearance in text: rs140621530
PubMed Link: 26117401
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

The New England Journal Of Medicine
, J Crosby, GM Peloso, PL Auer, DR Crosslin, NO Stitziel, LA Lange, Y Lu, ZZ Tang, H Zhang, G Hindy, N Masca, K Stirrups, S Kanoni, R Do, G Jun, Y Hu, HM Kang, C Xue, A Goel, M Farrall, S Duga, PA Merlini, R Asselta, D Girelli, O Olivieri, N Martinelli, W Yin, D Reilly, E Speliotes, CS Fox, K Hveem, OL Holmen, M Nikpay, DN Farlow, TL Assimes, N Franceschini, J Robinson, KE North, LW Martin, M DePristo, N Gupta, SA Escher, JH Jansson, N Van Zuydam, CN Palmer, N Wareham, W Koch, T Meitinger, A Peters, W Lieb, R Erbel, IR Konig, J Kruppa, F Degenhardt, O Gottesman, EP Bottinger, CJ O'Donnell, BM Psaty, CM Ballantyne, G Abecasis, JM Ordovas, O Melander, H Watkins, M Orho-Melander, D Ardissino, RJ Loos, R McPherson, CJ Willer, J Erdmann, AS Hall, NJ Samani, P Deloukas, H Schunkert, JG Wilson, C Kooperberg, SS Rich, RP Tracy, DY Lin, D Altshuler, S Gabriel, DA Nickerson, GP Jarvik, LA Cupples, AP Reiner, E Boerwinkle, S Kathiresan
Publication Date: 2014-07-03

Variant appearance in text: rs140621530
PubMed Link: 24941081
Variant Present in the following documents:
  • NIHMS619895-supplement-Supplement1.pdf
View BVdb publication page



Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

American Journal Of Human Genetics
GM Peloso, PL Auer, JC Bis, A Voorman, AC Morrison, NO Stitziel, JA Brody, SA Khetarpal, JR Crosby, M Fornage, A Isaacs, J Jakobsdottir, MF Feitosa, G Davies, JE Huffman, A Manichaikul, B Davis, K Lohman, AY Joon, AV Smith, ML Grove, P Zanoni, V Redon, S Demissie, K Lawson, U Peters, C Carlson, RD Jackson, KK Ryckman, RH Mackey, JG Robinson, DS Siscovick, PJ Schreiner, JC Mychaleckyj, JS Pankow, A Hofman, AG Uitterlinden, TB Harris, KD Taylor, JM Stafford, LM Reynolds, RE Marioni, A Dehghan, OH Franco, AP Patel, Y Lu, G Hindy, O Gottesman, EP Bottinger, O Melander, M Orho-Melander, RJ Loos, S Duga, PA Merlini, M Farrall, A Goel, R Asselta, D Girelli, N Martinelli, SH Shah, WE Kraus, M Li, DJ Rader, MP Reilly, R McPherson, H Watkins, D Ardissino, , Q Zhang, J Wang, MY Tsai, HA Taylor, A Correa, ME Griswold, LA Lange, JM Starr, I Rudan, G Eiriksdottir, LJ Launer, JM Ordovas, D Levy, YD Chen, AP Reiner, C Hayward, O Polasek, IJ Deary, IB Borecki, Y Liu, V Gudnason, JG Wilson, CM van Duijn, C Kooperberg, SS Rich, BM Psaty, JI Rotter, CJ O'Donnell, K Rice, E Boerwinkle, S Kathiresan, LA Cupples
Publication Date: 2014-02-06

Variant appearance in text: rs140621530
PubMed Link: 24507774
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227667.3 c.179+1G>T - splice_donor_variant - 3/3
ENST00000375345.1 c.233+1G>T - splice_donor_variant - 3/3
ENST00000470144.1 n.211+1G>T - splice_donor_variant,non_coding_transcript_variant - 3/3
NM_000040.3 c.179+1G>T - splice_donor_variant - 3/3