Variant ID: 11-116655600-G-A

NM_003904.3(ZPR1):c.791C>T;(p.Ala264Val)

This variant was identified in 5 publications




Publications:


Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation.

Circulation. Cardiovascular Genetics
WC Hsueh, AK Nair, S Kobes, P Chen, HHH Göring, TI Pollin, A Malhotra, WC Knowler, LJ Baier, RL Hanson
Publication Date: 2017-12

Variant appearance in text: rs35120633
PMID: 29237685
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Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
S Kanoni, NG Masca, KE Stirrups, TV Varga, HR Warren, RA Scott, L Southam, W Zhang, H Yaghootkar, M Müller-Nurasyid, A Couto Alves, RJ Strawbridge, L Lataniotis, N An Hashim, C Besse, A Boland, PS Braund, JM Connell, A Dominiczak, AE Farmaki, S Franks, H Grallert, JH Jansson, M Karaleftheri, S Keinänen-Kiukaanniemi, A Matchan, D Pasko, A Peters, N Poulter, NW Rayner, F Renström, O Rolandsson, M Sabater-Lleal, B Sennblad, P Sever, D Shields, A Silveira, AV Stanton, K Strauch, M Tomaszewski, E Tsafantakis, M Waldenberger, AI Blakemore, G Dedoussis, SA Escher, JS Kooner, MI McCarthy, CN Palmer, , A Hamsten, MJ Caulfield, TM Frayling, MD Tobin, MR Jarvelin, E Zeggini, C Gieger, JC Chambers, NJ Wareham, PB Munroe, PW Franks, NJ Samani, P Deloukas
Publication Date: 2016-09-15

Variant appearance in text: N/A
PMID: 27466198
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Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution.

Atherosclerosis
AP Patel, GM Peloso, JP Pirruccello, CT Johansen, JB Dubé, DB Larach, MR Ban, GM Dallinge-Thie, N Gupta, M Boehnke, GR Abecasis, JJ Kastelein, GK Hovingh, RA Hegele, DJ Rader, S Kathiresan
Publication Date: 2016-07

Variant appearance in text: N/A
PMID: 27182959
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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: ZNF259: 791C>T; rs35120633
PMID: 24507774
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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: rs35120633
PMID: 20876667
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227322.3 c.791C>T p.Ala264Val missense_variant 8/14 -
ENST00000429220.1 c.572C>T p.Ala191Val missense_variant 6/12 -
ENST00000444935.1 c.791C>T p.Ala264Val missense_variant 8/13 -
ENST00000449430.1 c.257C>T p.Ala86Val missense_variant,NMD_transcript_variant 4/8 -
NM_001317086.2 c.629C>T p.Ala210Val missense_variant 7/13 -
NM_003904.5 c.791C>T p.Ala264Val missense_variant 8/14 -