TCEA3 c.1038+364G>A

Variant ID: 1-23710475-C-T

NM_003196.1(TCEA3):c.1038+364G>A

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2298632
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders.

Human Molecular Genetics
van Duijvenboden, Stefan S; Ramírez, Julia J; Young, William J WJ; Orini, Michele M; Mifsud, Borbala B; Tinker, Andrew A; Lambiase, Pier D PD; Munroe, Patricia B PB
Publication Date: 2021-11-30

Variant appearance in text: rs2298632
PubMed Link: 34274964
Variant Present in the following documents:
  • Main text
  • ddab197.pdf
View BVdb publication page



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: rs2298632
PubMed Link: 33141630
Variant Present in the following documents:
  • hcg-13-e003133-s001.pdf
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: TCEA3: 1038+364G>A; rs2298632
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.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: rs2298632
PubMed Link: 29440116
Variant Present in the following documents:
  • hcg-11-e001813-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: rs2298632
PubMed Link: 29213071
Variant Present in the following documents:
  • 41598_2017_17136_MOESM1_ESM.pdf
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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: rs2298632
PubMed Link: 28800628
Variant Present in the following documents:
  • pone.0181875.s004.xlsx, sheet 1
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: rs2298632
PubMed Link: 27958378
Variant Present in the following documents:
  • Main text
  • nihms830044.pdf
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Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram.

Human Molecular Genetics
Verweij, Niek N; Mateo Leach, Irene I; Isaacs, Aaron A; Arking, Dan E DE; Bis, Joshua C JC; Pers, Tune H TH; Van Den Berg, Marten E ME; Lyytikäinen, Leo-Pekka LP; Barnett, Phil P; Wang, Xinchen X; , ; Soliman, Elsayed Z EZ; Van Duijn, Cornelia M CM; Kähönen, Mika M; Van Veldhuisen, Dirk J DJ; Kors, Jan A JA; Raitakari, Olli T OT; Silva, Claudia T CT; Lehtimäki, Terho T; Hillege, Hans L HL; Hirschhorn, Joel N JN; Boyer, Laurie A LA; Van Gilst, Wiek H WH; Alonso, Alvaro A; Sotoodehnia, Nona N; Eijgelsheim, Mark M; De Boer, Rudolf A RA; De Bakker, Paul I W PI; Franke, Lude L; Van Der Harst, Pim P
Publication Date: 2016-05-15

Variant appearance in text: rs2298632
PubMed Link: 26962151
Variant Present in the following documents:
  • Main text
  • ddw058.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: rs2298632
PubMed Link: 24952745
Variant Present in the following documents:
  • Main text
  • NIHMS600569-supplement-1.pdf
  • nihms600569.pdf
View BVdb publication page