SCN5A c.1140+98G>A

Variant ID: 3-38648062-C-T

NM_000335.4(SCN5A):c.1140+98G>A

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).

Peerj
Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L
Publication Date: 2022

Variant appearance in text: rs6599222
PubMed Link: 35996667
Variant Present in the following documents:
  • Main text
  • peerj-10-13913.pdf
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Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study.

Gut
Buch, Stephan S; Innes, Hamish H; Lutz, Philipp Ludwig PL; Nischalke, Hans Dieter HD; Marquardt, Jens U JU; Fischer, Janett J; Weiss, Karl Heinz KH; Rosendahl, Jonas J; Marot, Astrid A; Krawczyk, Marcin M; Casper, Markus M; Lammert, Frank F; Eyer, Florian F; Vogel, Arndt A; Marhenke, Silke S; von Felden, Johann J; Sharma, Rohini R; Atkinson, Stephen Rahul SR; McQuillin, Andrew A; Nattermann, Jacob J; Schafmayer, Clemens C; Franke, Andre A; Strassburg, Christian C; Rietschel, Marcella M; Altmann, Heidi H; Sulk, Stefan S; Thangapandi, Veera Raghavan VR; Brosch, Mario M; Lackner, Carolin C; Stauber, Rudolf E RE; Canbay, Ali A; Link, Alexander A; Reiberger, Thomas T; Mandorfer, Mattias M; Semmler, Georg G; Scheiner, Bernhard B; Datz, Christian C; Romeo, Stefano S; Ginanni Corradini, Stefano S; Irving, William Lucien WL; Morling, Joanne R JR; Guha, Indra Neil IN; Barnes, Eleanor E; Ansari, M Azim MA; Quistrebert, Jocelyn J; Valenti, Luca L; Müller, Sascha A SA; Morgan, Marsha Yvonne MY; Dufour, Jean-François JF; Trebicka, Jonel J; Berg, Thomas T; Deltenre, Pierre P; Mueller, Sebastian S; Hampe, Jochen J; Stickel, Felix F
Publication Date: 2022-07-04

Variant appearance in text: rs6599222
PubMed Link: 35788059
Variant Present in the following documents:
  • Main text
  • gutjnl-2022-327196.pdf
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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: SCN5A: 1140+98G>A; rs6599222
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: rs6599222
PubMed Link: 32490690
Variant Present in the following documents:
  • hcg-13-e002797-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: SCN5A: 1140+98G>A; rs6599222
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
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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: rs6599222
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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Genome-wide association study of PR interval in Hispanics/Latinos identifies novel locus at ID2.

Heart (British Cardiac Society)
Seyerle, Amanda A AA; Lin, Henry J HJ; Gogarten, Stephanie M SM; Stilp, Adrienne A; Méndez Giráldez, Raul R; Soliman, Elsayed E; Baldassari, Antoine A; Graff, Mariaelisa M; Heckbert, Susan S; Kerr, Kathleen F KF; Kooperberg, Charles C; Rodriguez, Carlos C; Guo, Xiuqing X; Yao, Jie J; Sotoodehnia, Nona N; Taylor, Kent D KD; Whitsel, Eric A EA; Rotter, Jerome I JI; Laurie, Cathy C CC; Avery, Christy L CL
Publication Date: 2018-06

Variant appearance in text: rs6599222
PubMed Link: 29127183
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.

Circulation. Cardiovascular Genetics
Christophersen, Ingrid E IE; Magnani, Jared W JW; Yin, Xiaoyan X; Barnard, John J; Weng, Lu-Chen LC; Arking, Dan E DE; Niemeijer, Maartje N MN; Lubitz, Steven A SA; Avery, Christy L CL; Duan, Qing Q; Felix, Stephan B SB; Bis, Joshua C JC; Kerr, Kathleen F KF; Isaacs, Aaron A; Müller-Nurasyid, Martina M; Müller, Christian C; North, Kari E KE; Reiner, Alex P AP; Tinker, Lesley F LF; Kors, Jan A JA; Teumer, Alexander A; Petersmann, Astrid A; Sinner, Moritz F MF; Buzkova, Petra P; Smith, Jonathan D JD; Van Wagoner, David R DR; Völker, Uwe U; Waldenberger, Melanie M; Peters, Annette A; Meitinger, Thomas T; Limacher, Marian C MC; Wilhelmsen, Kirk C KC; Psaty, Bruce M BM; Hofman, Albert A; Uitterlinden, Andre A; Krijthe, Bouwe P BP; Zhang, Zhu-Ming ZM; Schnabel, Renate B RB; Kääb, Stefan S; van Duijn, Cornelia C; Rotter, Jerome I JI; Sotoodehnia, Nona N; Dörr, Marcus M; Li, Yun Y; Chung, Mina K MK; Soliman, Elsayed Z EZ; Alonso, Alvaro A; Whitsel, Eric A EA; Stricker, Bruno H BH; Benjamin, Emelia J EJ; Heckbert, Susan R SR; Ellinor, Patrick T PT
Publication Date: 2017-08

Variant appearance in text: rs6599222
PubMed Link: 28794112
Variant Present in the following documents:
  • Main text
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs6599222
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs6599222
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genetic determinants of P wave duration and PR segment.

Circulation. Cardiovascular Genetics
Verweij, Niek N; Mateo Leach, Irene I; van den Boogaard, Malou M; van Veldhuisen, Dirk J DJ; Christoffels, Vincent M VM; , ; Hillege, Hans L HL; van Gilst, Wiek H WH; Barnett, Phil P; de Boer, Rudolf A RA; van der Harst, Pim P
Publication Date: 2014-08

Variant appearance in text: rs6599222
PubMed Link: 24850809
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association studies of the PR interval in African Americans.

Plos Genetics
Smith, J Gustav JG; Magnani, Jared W JW; Palmer, Cameron C; Meng, Yan A YA; Soliman, Elsayed Z EZ; Musani, Solomon K SK; Kerr, Kathleen F KF; Schnabel, Renate B RB; Lubitz, Steven A SA; Sotoodehnia, Nona N; Redline, Susan S; Pfeufer, Arne A; Müller, Martina M; Evans, Daniel S DS; Nalls, Michael A MA; Liu, Yongmei Y; Newman, Anne B AB; Zonderman, Alan B AB; Evans, Michele K MK; Deo, Rajat R; Ellinor, Patrick T PT; Paltoo, Dina N DN; Newton-Cheh, Christopher C; Benjamin, Emelia J EJ; Mehra, Reena R; Alonso, Alvaro A; Heckbert, Susan R SR; Fox, Ervin R ER; ,
Publication Date: 2011-02-10

Variant appearance in text: rs6599222
PubMed Link: 21347284
Variant Present in the following documents:
  • Main text
  • pgen.1001304.pdf
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