SCN5A c.4811-344A>G

Variant ID: 3-38593393-T-C

NM_000335.4(SCN5A):c.4811-344A>G

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Long QT syndrome - Bench to bedside.

Heart Rhythm O2
Ponce-Balbuena, Daniela D; Deschênes, Isabelle I
Publication Date: 2021-02

Variant appearance in text: rs12053903
PubMed Link: 34113909
Variant Present in the following documents:
  • Main text
  • main.pdf
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Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome: SADS-TW BrS Registry.

Circulation. Genomic And Precision Medicine
Jimmy Juang, Jyh-Ming JM; Liu, Yen-Bin YB; Julius Chen, Ching-Yu CY; Yu, Qi-You QY; Chattopadhyay, Amrita A; Lin, Lian-Yu LY; Chen, Wen-Jone WJ; Yu, Chih-Chien CC; Huang, Hui-Chun HC; Ho, Li-Ting LT; Lai, Ling-Ping LP; Hwang, Juey-Jen JJ; Lin, Ting-Tse TT; Liao, Min-Tsun MT; Chen, Jien-Jiun JJ; Sherri Yeh, Shih-Fan SF; Chuang, Jing-Yuan JY; Yang, Dun-Hui DH; Lin, Jiunn-Lee JL; Lu, Tzu-Pin TP; Chuang, Eric Y EY; Ackerman, Michael J MJ
Publication Date: 2020-08

Variant appearance in text: rs12053903
PubMed Link: 32490690
Variant Present in the following documents:
  • hcg-13-e002797-s001.pdf
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs12053903
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.

Circulation. Genomic And Precision Medicine
Bihlmeyer, Nathan A NA; Brody, Jennifer A JA; Smith, Albert Vernon AV; Warren, Helen R HR; Lin, Honghuang H; Isaacs, Aaron A; Liu, Ching-Ti CT; Marten, Jonathan J; Radmanesh, Farid F; Hall, Leanne M LM; Grarup, Niels N; Mei, Hao H; Müller-Nurasyid, Martina M; Huffman, Jennifer E JE; Verweij, Niek N; Guo, Xiuqing X; Yao, Jie J; Li-Gao, Ruifang R; van den Berg, Marten M; Weiss, Stefan S; Prins, Bram P BP; van Setten, Jessica J; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Li, Man M; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Bis, Joshua C JC; Austin, Tom T; Chen, Yii-Der Ida YI; Psaty, Bruce M BM; Harrris, Tamara B TB; Launer, Lenore J LJ; Padmanabhan, Sandosh S; Dominiczak, Anna A; Huang, Paul L PL; Xie, Zhijun Z; Ellinor, Patrick T PT; Kors, Jan A JA; Campbell, Archie A; Murray, Alison D AD; Nelson, Christopher P CP; Tobin, Martin D MD; Bork-Jensen, Jette J; Hansen, Torben T; Pedersen, Oluf O; Linneberg, Allan A; Sinner, Moritz F MF; Peters, Annette A; Waldenberger, Melanie M; Meitinger, Thomas T; Perz, Siegfried S; Kolcic, Ivana I; Rudan, Igor I; de Boer, Rudolf A RA; van der Meer, Peter P; Lin, Henry J HJ; Taylor, Kent D KD; de Mutsert, Renée R; Trompet, Stella S; Jukema, J Wouter JW; Maan, Arie C AC; Stricker, Bruno H C BHC; Rivadeneira, Fernando F; Uitterlinden, André A; Völker, Uwe U; Homuth, Georg G; Völzke, Henry H; Felix, Stephan B SB; Mangino, Massimo M; Spector, Timothy D TD; Bots, Michiel L ML; Perez, Marco M; Raitakari, Olli T OT; Kähönen, Mika M; Mononen, Nina N; Gudnason, Vilmundur V; Munroe, Patricia B PB; Lubitz, Steven A SA; van Duijn, Cornelia M CM; Newton-Cheh, Christopher H CH; Hayward, Caroline C; Rosand, Jonathan J; Samani, Nilesh J NJ; Kanters, Jørgen K JK; Wilson, James G JG; Kääb, Stefan S; Polasek, Ozren O; van der Harst, Pim P; Heckbert, Susan R SR; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Eijgelsheim, Mark M; Dörr, Marcus M; Jamshidi, Yalda Y; Asselbergs, Folkert W FW; Kooperberg, Charles C; Lehtimäki, Terho T; Arking, Dan E DE; Sotoodehnia, Nona N
Publication Date: 2018-01

Variant appearance in text: rs12053903
PubMed Link: 29874175
Variant Present in the following documents:
  • Main text
  • hcg-11-e001758.pdf
  • hcg-11-e001758-s001.pdf
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GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

Scientific Reports
Méndez-Giráldez, Raúl R; Gogarten, Stephanie M SM; Below, Jennifer E JE; Yao, Jie J; Seyerle, Amanda A AA; Highland, Heather M HM; Kooperberg, Charles C; Soliman, Elsayed Z EZ; Rotter, Jerome I JI; Kerr, Kathleen F KF; Ryckman, Kelli K KK; Taylor, Kent D KD; Petty, Lauren E LE; Shah, Sanjiv J SJ; Conomos, Matthew P MP; Sotoodehnia, Nona N; Cheng, Susan S; Heckbert, Susan R SR; Sofer, Tamar T; Guo, Xiuqing X; Whitsel, Eric A EA; Lin, Henry J HJ; Hanis, Craig L CL; Laurie, Cathy C CC; Avery, Christy L CL
Publication Date: 2017-12-06

Variant appearance in text: rs12053903
PubMed Link: 29213071
Variant Present in the following documents:
  • 41598_2017_17136_MOESM1_ESM.pdf
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Association of SCN10A Polymorphisms with the Recurrence of Atrial Fibrillation after Catheter Ablation in a Chinese Han Population.

Scientific Reports
Wu, Haiqing H; Xu, Juan J; Chen, Songwen S; Zhou, Genqing G; Qi, Baozhen B; Wei, Yong Y; Hu, En E; Tang, Dongdong D; Chen, Gang G; Li, Hongli H; Zhao, Liqun L; Shi, Yongyong Y; Liu, Shaowen S
Publication Date: 2017-03-10

Variant appearance in text: rs12053903
PubMed Link: 28281580
Variant Present in the following documents:
  • Main text
  • srep44003.pdf
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Fine mapping of QT interval regions in global populations refines previously identified QT interval loci and identifies signals unique to African and Hispanic descent populations.

Heart Rhythm
Avery, Christy L CL; Wassel, Christina L CL; Richard, Melissa A MA; Highland, Heather M HM; Bien, Stephanie S; Zubair, Niha N; Soliman, Elsayed Z EZ; Fornage, Myriam M; Bielinski, Suzette J SJ; Tao, Ran R; Seyerle, Amanda A AA; Shah, Sanjiv J SJ; Lloyd-Jones, Donald M DM; Buyske, Steven S; Rotter, Jerome I JI; Post, Wendy S WS; Rich, Stephen S SS; Hindorff, Lucia A LA; Jeff, Janina M JM; Shohet, Ralph V RV; Sotoodehnia, Nona N; Lin, Dan Yu DY; Whitsel, Eric A EA; Peters, Ulrike U; Haiman, Christopher A CA; Crawford, Dana C DC; Kooperberg, Charles C; North, Kari E KE
Publication Date: 2017-04

Variant appearance in text: rs12053903
PubMed Link: 27988371
Variant Present in the following documents:
  • Main text
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Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.

Circulation. Cardiovascular Genetics
Kolder, Iris C R M ICRM; Tanck, Michael W T MWT; Postema, Pieter G PG; Barc, Julien J; Sinner, Moritz F MF; Zumhagen, Sven S; Husemann, Anja A; Stallmeyer, Birgit B; Koopmann, Tamara T TT; Hofman, Nynke N; Pfeufer, Arne A; Lichtner, Peter P; Meitinger, Thomas T; Beckmann, Britt M BM; Myerburg, Robert J RJ; Bishopric, Nanette H NH; Roden, Dan M DM; Kääb, Stefan S; Wilde, Arthur A M AAM; Schott, Jean-Jacques JJ; Schulze-Bahr, Eric E; Bezzina, Connie R CR
Publication Date: 2015-06

Variant appearance in text: rs12053903
PubMed Link: 25737393
Variant Present in the following documents:
  • Main text
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Evidence of heterogeneity by race/ethnicity in genetic determinants of QT interval.

Epidemiology (Cambridge, Mass.)
Seyerle, Amanda A AA; Young, Alicia M AM; Jeff, Janina M JM; Melton, Phillip E PE; Jorgensen, Neal W NW; Lin, Yi Y; Carty, Cara L CL; Deelman, Ewa E; Heckbert, Susan R SR; Hindorff, Lucia A LA; Jackson, Rebecca D RD; Martin, Lisa W LW; Okin, Peter M PM; Perez, Marco V MV; Psaty, Bruce M BM; Soliman, Elsayed Z EZ; Whitsel, Eric A EA; North, Kari E KE; Laston, Sandra S; Kooperberg, Charles C; Avery, Christy L CL
Publication Date: 2014-11

Variant appearance in text: rs12053903
PubMed Link: 25166880
Variant Present in the following documents:
  • Main text
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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07

Variant appearance in text: rs12053903
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
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OccuPeak: ChIP-Seq peak calling based on internal background modelling.

Plos One
de Boer, Bouke A BA; van Duijvenboden, Karel K; van den Boogaard, Malou M; Christoffels, Vincent M VM; Barnett, Phil P; Ruijter, Jan M JM
Publication Date: 2014

Variant appearance in text: rs12053903
PubMed Link: 24936875
Variant Present in the following documents:
  • Main text
  • pone.0099844.pdf
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Arrhythmia risk in long QT syndrome: beyond the disease-causative mutation.

Circulation. Cardiovascular Genetics
Giudicessi, John R JR; Ackerman, Michael J MJ
Publication Date: 2013-08

Variant appearance in text: rs12053903
PubMed Link: 23963159
Variant Present in the following documents:
  • Main text
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Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.

Circulation. Cardiovascular Genetics
Duchatelet, Sabine S; Crotti, Lia L; Peat, Rachel A RA; Denjoy, Isabelle I; Itoh, Hideki H; Berthet, Myriam M; Ohno, Seiko S; Fressart, Véronique V; Monti, Maria Cristina MC; Crocamo, Cristina C; Pedrazzini, Matteo M; Dagradi, Federica F; Vicentini, Alessandro A; Klug, Didier D; Brink, Paul A PA; Goosen, Althea A; Swan, Heikki H; Toivonen, Lauri L; Lahtinen, Annukka M AM; Kontula, Kimmo K; Shimizu, Wataru W; Horie, Minoru M; George, Alfred L AL; Trégouët, David-Alexandre DA; Guicheney, Pascale P; Schwartz, Peter J PJ
Publication Date: 2013-08

Variant appearance in text: rs12053903
PubMed Link: 23856471
Variant Present in the following documents:
  • Main text
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Long QT syndrome: beyond the causal mutation.

The Journal Of Physiology
Amin, Ahmad S AS; Pinto, Yigal M YM; Wilde, Arthur A M AA
Publication Date: 2013-09-01

Variant appearance in text: rs12053903
PubMed Link: 23753525
Variant Present in the following documents:
  • Main text
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Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.

The Pharmacogenomics Journal
Avery, C L CL; Sitlani, C M CM; Arking, D E DE; Arnett, D K DK; Bis, J C JC; Boerwinkle, E E; Buckley, B M BM; Ida Chen, Y-D YD; de Craen, A J M AJ; Eijgelsheim, M M; Enquobahrie, D D; Evans, D S DS; Ford, I I; Garcia, M E ME; Gudnason, V V; Harris, T B TB; Heckbert, S R SR; Hochner, H H; Hofman, A A; Hsueh, W-C WC; Isaacs, A A; Jukema, J W JW; Knekt, P P; Kors, J A JA; Krijthe, B P BP; Kristiansson, K K; Laaksonen, M M; Liu, Y Y; Li, X X; Macfarlane, P W PW; Newton-Cheh, C C; Nieminen, M S MS; Oostra, B A BA; Peloso, G M GM; Porthan, K K; Rice, K K; Rivadeneira, F F FF; Rotter, J I JI; Salomaa, V V; Sattar, N N; Siscovick, D S DS; Slagboom, P E PE; Smith, A V AV; Sotoodehnia, N N; Stott, D J DJ; Stricker, B H BH; Stürmer, T T; Trompet, S S; Uitterlinden, A G AG; van Duijn, C C; Westendorp, R G J RG; Witteman, J C JC; Whitsel, E A EA; Psaty, B M BM
Publication Date: 2014-02

Variant appearance in text: rs12053903
PubMed Link: 23459443
Variant Present in the following documents:
  • Main text
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SNPs identified as modulators of ECG traits in the general population do not markedly affect ECG traits during acute myocardial infarction nor ventricular fibrillation risk in this condition.

Plos One
Pazoki, Raha R; de Jong, Jonas S S G JS; Marsman, Roos F RF; Bruinsma, Nienke N; Dekker, Lukas R C LR; Wilde, Arthur A M AA; Bezzina, Connie R CR; Tanck, Michael W T MW
Publication Date: 2013

Variant appearance in text: rs12053903
PubMed Link: 23437344
Variant Present in the following documents:
  • Main text
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Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes.

Translational Research : The Journal Of Laboratory And Clinical Medicine
Giudicessi, John R JR; Ackerman, Michael J MJ
Publication Date: 2013-01

Variant appearance in text: rs12053903
PubMed Link: 22995932
Variant Present in the following documents:
  • Main text
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Fine-mapping and initial characterization of QT interval loci in African Americans.

Plos Genetics
Avery, Christy L CL; Sethupathy, Praveen P; Buyske, Steven S; He, Qianchuan Q; Lin, Dan-Yu DY; Arking, Dan E DE; Carty, Cara L CL; Duggan, David D; Fesinmeyer, Megan D MD; Hindorff, Lucia A LA; Jeff, Janina M JM; Klein, Liviu L; Patton, Kristen K KK; Peters, Ulrike U; Shohet, Ralph V RV; Sotoodehnia, Nona N; Young, Alicia M AM; Kooperberg, Charles C; Haiman, Christopher A CA; Mohlke, Karen L KL; Whitsel, Eric A EA; North, Kari E KE
Publication Date: 2012

Variant appearance in text: rs12053903
PubMed Link: 22912591
Variant Present in the following documents:
  • Main text
  • pgen.1002870.pdf
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A common variant in SLC8A1 is associated with the duration of the electrocardiographic QT interval.

American Journal Of Human Genetics
Kim, Jong Wook JW; Hong, Kyung-Won KW; Go, Min Jin MJ; Kim, Sung Soo SS; Tabara, Yasuharu Y; Kita, Yoshikuni Y; Tanigawa, Takeshi T; Cho, Yoon Shin YS; Han, Bok-Ghee BG; Oh, Bermseok B
Publication Date: 2012-07-13

Variant appearance in text: rs12053903
PubMed Link: 22726844
Variant Present in the following documents:
  • Main text
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Epidemiology and genetics of sudden cardiac death.

Circulation
Deo, Rajat R; Albert, Christine M CM
Publication Date: 2012-01-31

Variant appearance in text: rs12053903
PubMed Link: 22294707
Variant Present in the following documents:
  • Main text
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Common genetic variants, QT interval, and sudden cardiac death in a Finnish population-based study.

Circulation. Cardiovascular Genetics
Noseworthy, Peter A PA; Havulinna, Aki S AS; Porthan, Kimmo K; Lahtinen, Annukka M AM; Jula, Antti A; Karhunen, Pekka J PJ; Perola, Markus M; Oikarinen, Lasse L; Kontula, Kimmo K KK; Salomaa, Veikko V; Newton-Cheh, Christopher C
Publication Date: 2011-06

Variant appearance in text: rs12053903
PubMed Link: 21511878
Variant Present in the following documents:
  • Main text
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Novel genes for QTc interval. How much heritability is explained, and how much is left to find?

Genome Medicine
Jamshidi, Yalda Y; Nolte, Ilja M IM; Spector, Timothy D TD; Snieder, Harold H
Publication Date: 2010-05-27

Variant appearance in text: rs12053903
PubMed Link: 20519034
Variant Present in the following documents:
  • Main text
  • gm156.pdf
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Systems pharmacology of arrhythmias.

Science Signaling
Berger, Seth I SI; Ma'ayan, Avi A; Iyengar, Ravi R
Publication Date: 2010-04-20

Variant appearance in text: rs12053903
PubMed Link: 20407125
Variant Present in the following documents:
  • Main text
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Genome-wide association study of PR interval.

Nature Genetics
Pfeufer, Arne A; van Noord, Charlotte C; Marciante, Kristin D KD; Arking, Dan E DE; Larson, Martin G MG; Smith, Albert Vernon AV; Tarasov, Kirill V KV; Müller, Martina M; Sotoodehnia, Nona N; Sinner, Moritz F MF; Verwoert, Germaine C GC; Li, Man M; Kao, W H Linda WH; Köttgen, Anna A; Coresh, Josef J; Bis, Joshua C JC; Psaty, Bruce M BM; Rice, Kenneth K; Rotter, Jerome I JI; Rivadeneira, Fernando F; Hofman, Albert A; Kors, Jan A JA; Stricker, Bruno H C BH; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Beckmann, Britt M BM; Sauter, Wiebke W; Gieger, Christian C; Lubitz, Steven A SA; Newton-Cheh, Christopher C; Wang, Thomas J TJ; Magnani, Jared W JW; Schnabel, Renate B RB; Chung, Mina K MK; Barnard, John J; Smith, Jonathan D JD; Van Wagoner, David R DR; Vasan, Ramachandran S RS; Aspelund, Thor T; Eiriksdottir, Gudny G; Harris, Tamara B TB; Launer, Lenore J LJ; Najjar, Samer S SS; Lakatta, Edward E; Schlessinger, David D; Uda, Manuela M; Abecasis, Gonçalo R GR; Müller-Myhsok, Bertram B; Ehret, Georg B GB; Boerwinkle, Eric E; Chakravarti, Aravinda A; Soliman, Elsayed Z EZ; Lunetta, Kathryn L KL; Perz, Siegfried S; Wichmann, H-Erich HE; Meitinger, Thomas T; Levy, Daniel D; Gudnason, Vilmundur V; Ellinor, Patrick T PT; Sanna, Serena S; Kääb, Stefan S; Witteman, Jacqueline C M JC; Alonso, Alvaro A; Benjamin, Emelia J EJ; Heckbert, Susan R SR
Publication Date: 2010-02

Variant appearance in text: rs12053903
PubMed Link: 20062060
Variant Present in the following documents:
  • Main text
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Common variants at ten loci influence QT interval duration in the QTGEN Study.

Nature Genetics
Newton-Cheh, Christopher C; Eijgelsheim, Mark M; Rice, Kenneth M KM; de Bakker, Paul I W PI; Yin, Xiaoyan X; Estrada, Karol K; Bis, Joshua C JC; Marciante, Kristin K; Rivadeneira, Fernando F; Noseworthy, Peter A PA; Sotoodehnia, Nona N; Smith, Nicholas L NL; Rotter, Jerome I JI; Kors, Jan A JA; Witteman, Jacqueline C M JC; Hofman, Albert A; Heckbert, Susan R SR; O'Donnell, Christopher J CJ; Uitterlinden, André G AG; Psaty, Bruce M BM; Lumley, Thomas T; Larson, Martin G MG; Stricker, Bruno H Ch BH
Publication Date: 2009-04

Variant appearance in text: rs12053903
PubMed Link: 19305408
Variant Present in the following documents:
  • Main text
  • nihms100620.pdf
  • NIHMS100620-supplement-1.pdf
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