SCN5A c.4243-262C>T

Variant ID: 3-38599037-G-A

NM_000335.4(SCN5A):c.4243-262C>T

This variant was identified in 10 publications

View GRCh38 version.




Publications:


KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Circulation. Genomic And Precision Medicine
Streeten, Elizabeth A EA; See, Vincent Y VY; Jeng, Linda B J LBJ; Maloney, Kristin A KA; Lynch, Megan M; Glazer, Andrew M AM; Yang, Tao T; Roden, Dan D; Pollin, Toni I TI; Daue, Melanie M; Ryan, Kathleen A KA; Van Hout, Cristopher C; Gosalia, Nehal N; Gonzaga-Jauregui, Claudia C; Economides, Aris A; Perry, James A JA; O'Connell, Jeffrey J; Beitelshees, Amber A; Palmer, Kathleen K; Mitchell, Braxton D BD; Shuldiner, Alan R AR; ,
Publication Date: 2020-12

Variant appearance in text: rs6793245
PubMed Link: 33141630
Variant Present in the following documents:
  • hcg-13-e003133-s001.pdf
View BVdb publication page



Genome-wide association studies of cardiac electrical phenotypes.

Cardiovascular Research
Glinge, Charlotte C; Lahrouchi, Najim N; Jabbari, Reza R; Tfelt-Hansen, Jacob J; Bezzina, Connie R CR
Publication Date: 2020-07-15

Variant appearance in text: rs6793245
PubMed Link: 32428210
Variant Present in the following documents:
  • Main text
  • cvaa144.pdf
View BVdb publication page



Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kapoor, Ashish A; Lee, Dongwon D; Zhu, Luke L; Soliman, Elsayed Z EZ; Grove, Megan L ML; Boerwinkle, Eric E; Arking, Dan E DE; Chakravarti, Aravinda A
Publication Date: 2019-05-28

Variant appearance in text: rs6793245
PubMed Link: 31068470
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs6793245
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Improving Interpretation of Cardiac Phenotypes and Enhancing Discovery With Expanded Knowledge in the Gene Ontology.

Circulation. Genomic And Precision Medicine
Lovering, Ruth C RC; Roncaglia, Paola P; Howe, Douglas G DG; Laulederkind, Stanley J F SJF; Khodiyar, Varsha K VK; Berardini, Tanya Z TZ; Tweedie, Susan S; Foulger, Rebecca E RE; Osumi-Sutherland, David D; Campbell, Nancy H NH; Huntley, Rachael P RP; Talmud, Philippa J PJ; Blake, Judith A JA; Breckenridge, Ross R; Riley, Paul R PR; Lambiase, Pier D PD; Elliott, Perry M PM; Clapp, Lucie L; Tinker, Andrew A; Hill, David P DP
Publication Date: 2018-02

Variant appearance in text: rs6793245
PubMed Link: 29440116
Variant Present in the following documents:
  • hcg-11-e001813-s001.pdf
View BVdb publication page



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: rs6793245
PubMed Link: 29213071
Variant Present in the following documents:
  • 41598_2017_17136_MOESM1_ESM.pdf
View BVdb publication page



GENomE wide analysis of sotalol-induced IKr inhibition during ventricular REPOLarization, "GENEREPOL study": Lack of common variants with large effect sizes.

Plos One
Salem, Joe-Elie JE; Germain, Marine M; Hulot, Jean-Sébastien JS; Voiriot, Pascal P; Lebourgeois, Bruno B; Waldura, Jean J; Tregouet, David-Alexandre DA; Charbit, Beny B; Funck-Brentano, Christian C
Publication Date: 2017

Variant appearance in text: rs6793245
PubMed Link: 28800628
Variant Present in the following documents:
  • pone.0181875.s004.xlsx, sheet 1
View BVdb publication page



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: rs6793245
PubMed Link: 27988371
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group.

The Pharmacogenomics Journal
Floyd, J S JS; Sitlani, C M CM; Avery, C L CL; Noordam, R R; Li, X X; Smith, A V AV; Gogarten, S M SM; Li, J J; Broer, L L; Evans, D S DS; Trompet, S S; Brody, J A JA; Stewart, J D JD; Eicher, J D JD; Seyerle, A A AA; Roach, J J; Lange, L A LA; Lin, H J HJ; Kors, J A JA; Harris, T B TB; Li-Gao, R R; Sattar, N N; Cummings, S R SR; Wiggins, K L KL; Napier, M D MD; Stürmer, T T; Bis, J C JC; Kerr, K F KF; Uitterlinden, A G AG; Taylor, K D KD; Stott, D J DJ; de Mutsert, R R; Launer, L J LJ; Busch, E L EL; Méndez-Giráldez, R R; Sotoodehnia, N N; Soliman, E Z EZ; Li, Y Y; Duan, Q Q; Rosendaal, F R FR; Slagboom, P E PE; Wilhelmsen, K C KC; Reiner, A P AP; Chen, Y-Di YD; Heckbert, S R SR; Kaplan, R C RC; Rice, K M KM; Jukema, J W JW; Johnson, A D AD; Liu, Y Y; Mook-Kanamori, D O DO; Gudnason, V V; Wilson, J G JG; Rotter, J I JI; Laurie, C C CC; Psaty, B M BM; Whitsel, E A EA; Cupples, L A LA; Stricker, B H BH
Publication Date: 2018-01

Variant appearance in text: rs6793245
PubMed Link: 27958378
Variant Present in the following documents:
  • Main text
  • nihms830044.pdf
View BVdb publication page



Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Nature Genetics
Arking, Dan E DE; Pulit, Sara L SL; Crotti, Lia L; van der Harst, Pim P; Munroe, Patricia B PB; Koopmann, Tamara T TT; Sotoodehnia, Nona N; Rossin, Elizabeth J EJ; Morley, Michael M; Wang, Xinchen X; Johnson, Andrew D AD; Lundby, Alicia A; Gudbjartsson, Daníel F DF; Noseworthy, Peter A PA; Eijgelsheim, Mark M; Bradford, Yuki Y; Tarasov, Kirill V KV; Dörr, Marcus M; Müller-Nurasyid, Martina M; Lahtinen, Annukka M AM; Nolte, Ilja M IM; Smith, Albert Vernon AV; Bis, Joshua C JC; Isaacs, Aaron A; Newhouse, Stephen J SJ; Evans, Daniel S DS; Post, Wendy S WS; Waggott, Daryl D; Lyytikäinen, Leo-Pekka LP; Hicks, Andrew A AA; Eisele, Lewin L; Ellinghaus, David D; Hayward, Caroline C; Navarro, Pau P; Ulivi, Sheila S; Tanaka, Toshiko T; Tester, David J DJ; Chatel, Stéphanie S; Gustafsson, Stefan S; Kumari, Meena M; Morris, Richard W RW; Naluai, Åsa T ÅT; Padmanabhan, Sandosh S; Kluttig, Alexander A; Strohmer, Bernhard B; Panayiotou, Andrie G AG; Torres, Maria M; Knoflach, Michael M; Hubacek, Jaroslav A JA; Slowikowski, Kamil K; Raychaudhuri, Soumya S; Kumar, Runjun D RD; Harris, Tamara B TB; Launer, Lenore J LJ; Shuldiner, Alan R AR; Alonso, Alvaro A; Bader, Joel S JS; Ehret, Georg G; Huang, Hailiang H; Kao, W H Linda WH; Strait, James B JB; Macfarlane, Peter W PW; Brown, Morris M; Caulfield, Mark J MJ; Samani, Nilesh J NJ; Kronenberg, Florian F; Willeit, Johann J; , ; , ; Smith, J Gustav JG; Greiser, Karin H KH; Meyer Zu Schwabedissen, Henriette H; Werdan, Karl K; Carella, Massimo M; Zelante, Leopoldo L; Heckbert, Susan R SR; Psaty, Bruce M BM; Rotter, Jerome I JI; Kolcic, Ivana I; Polašek, Ozren O; Wright, Alan F AF; Griffin, Maura M; Daly, Mark J MJ; , ; Arnar, David O DO; Hólm, Hilma H; Thorsteinsdottir, Unnur U; , ; Denny, Joshua C JC; Roden, Dan M DM; Zuvich, Rebecca L RL; Emilsson, Valur V; Plump, Andrew S AS; Larson, Martin G MG; O'Donnell, Christopher J CJ; Yin, Xiaoyan X; Bobbo, Marco M; D'Adamo, Adamo P AP; Iorio, Annamaria A; Sinagra, Gianfranco G; Carracedo, Angel A; Cummings, Steven R SR; Nalls, Michael A MA; Jula, Antti A; Kontula, Kimmo K KK; Marjamaa, Annukka A; Oikarinen, Lasse L; Perola, Markus M; Porthan, Kimmo K; Erbel, Raimund R; Hoffmann, Per P; Jöckel, Karl-Heinz KH; Kälsch, Hagen H; Nöthen, Markus M MM; , ; den Hoed, Marcel M; Loos, Ruth J F RJ; Thelle, Dag S DS; Gieger, Christian C; Meitinger, Thomas T; Perz, Siegfried S; Peters, Annette A; Prucha, Hanna H; Sinner, Moritz F MF; Waldenberger, Melanie M; de Boer, Rudolf A RA; Franke, Lude L; van der Vleuten, Pieter A PA; Beckmann, Britt Maria BM; Martens, Eimo E; Bardai, Abdennasser A; Hofman, Nynke N; Wilde, Arthur A M AA; Behr, Elijah R ER; Dalageorgou, Chrysoula C; Giudicessi, John R JR; Medeiros-Domingo, Argelia A; Barc, Julien J; Kyndt, Florence F; Probst, Vincent V; Ghidoni, Alice A; Insolia, Roberto R; Hamilton, Robert M RM; Scherer, Stephen W SW; Brandimarto, Jeffrey J; Margulies, Kenneth K; Moravec, Christine E CE; del Greco M, Fabiola F; Fuchsberger, Christian C; O'Connell, Jeffrey R JR; Lee, Wai K WK; Watt, Graham C M GC; Campbell, Harry H; Wild, Sarah H SH; El Mokhtari, Nour E NE; Frey, Norbert N; Asselbergs, Folkert W FW; Mateo Leach, Irene I; Navis, Gerjan G; van den Berg, Maarten P MP; van Veldhuisen, Dirk J DJ; Kellis, Manolis M; Krijthe, Bouwe P BP; Franco, Oscar H OH; Hofman, Albert A; Kors, Jan A JA; Uitterlinden, André G AG; Witteman, Jacqueline C M JC; Kedenko, Lyudmyla L; Lamina, Claudia C; Oostra, Ben A BA; Abecasis, Gonçalo R GR; Lakatta, Edward G EG; Mulas, Antonella A; Orrú, Marco M; Schlessinger, David D; Uda, Manuela M; Markus, Marcello R P MR; Völker, Uwe U; Snieder, Harold H; Spector, Timothy D TD; Ärnlöv, Johan J; Lind, Lars L; Sundström, Johan J; Syvänen, Ann-Christine AC; Kivimaki, Mika M; Kähönen, Mika M; Mononen, Nina N; Raitakari, Olli T OT; Viikari, Jorma S JS; Adamkova, Vera V; Kiechl, Stefan S; Brion, Maria M; Nicolaides, Andrew N AN; Paulweber, Bernhard B; Haerting, Johannes J; Dominiczak, Anna F AF; Nyberg, Fredrik F; Whincup, Peter H PH; Hingorani, Aroon D AD; Schott, Jean-Jacques JJ; Bezzina, Connie R CR; Ingelsson, Erik E; Ferrucci, Luigi L; Gasparini, Paolo P; Wilson, James F JF; Rudan, Igor I; Franke, Andre A; Mühleisen, Thomas W TW; Pramstaller, Peter P PP; Lehtimäki, Terho J TJ; Paterson, Andrew D AD; Parsa, Afshin A; Liu, Yongmei Y; van Duijn, Cornelia M CM; Siscovick, David S DS; Gudnason, Vilmundur V; Jamshidi, Yalda Y; Salomaa, Veikko V; Felix, Stephan B SB; Sanna, Serena S; Ritchie, Marylyn D MD; Stricker, Bruno H BH; Stefansson, Kari K; Boyer, Laurie A LA; Cappola, Thomas P TP; Olsen, Jesper V JV; Lage, Kasper K; Schwartz, Peter J PJ; Kääb, Stefan S; Chakravarti, Aravinda A; Ackerman, Michael J MJ; Pfeufer, Arne A; de Bakker, Paul I W PI; Newton-Cheh, Christopher C
Publication Date: 2014-08

Variant appearance in text: rs6793245
PubMed Link: 24952745
Variant Present in the following documents:
  • Main text
  • NIHMS600569-supplement-1.pdf
  • nihms600569.pdf
View BVdb publication page