SCN5A c.3305C>A ;(p.S1102Y)

Variant ID: 3-38620907-G-T

NM_000335.4(SCN5A):c.3305C>A;(p.S1102Y)

This variant was identified in 65 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: rs7626962
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death.

Journal Of The American Heart Association
Chahine, Mohamed M; Fontaine, John M JM; Boutjdir, Mohamed M
Publication Date: 2022-03-15

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 35243873
Variant Present in the following documents:
  • Main text
  • JAH3-11-e023446.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: SCN5A: S1102Y; rs7626962
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: LQT3: S1102Y
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



Update on human genetic susceptibility to COVID-19: susceptibility to virus and response.

Human Genomics
Colona, Vito Luigi VL; Vasiliou, Vasilis V; Watt, Jessica J; Novelli, Giuseppe G; Reichardt, Juergen K V JKV
Publication Date: 2021-08-25

Variant appearance in text: rs7626962
PubMed Link: 34429158
Variant Present in the following documents:
  • Main text
  • 40246_2021_Article_356.pdf
View BVdb publication page



Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.

Cancer Medicine
Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS
Publication Date: 2021-05

Variant appearance in text: rs7626962
PubMed Link: 33811746
Variant Present in the following documents:
  • CAM4-10-3045-s001.xlsx, sheet 2
View BVdb publication page



Reference exome data for a Northern Brazilian population.

Scientific Data
Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB
Publication Date: 2020-10-21

Variant appearance in text: rs7626962
PubMed Link: 33087711
Variant Present in the following documents:
  • 41597_2020_703_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Ventricular Arrhythmia Risk Based on Ethnicity in COVID-19 Patients on Hydroxychloroquine and Azithromycin Combination: Viewpoint.

Sn Comprehensive Clinical Medicine
Roy, Sayak S; MainakMukhopadhyay,
Publication Date: 2020

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 32838150
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ventricular Arrhythmia Risk Based on Ethnicity in COVID-19 Patients on Hydroxychloroquine and Azithromycin Combination: Viewpoint.

Sn Comprehensive Clinical Medicine
Roy, Sayak S; MainakMukhopadhyay,
Publication Date: 2020-06-27

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 32838150
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of Comprehensive Pharmacogenomic Profiling of VIP Variants Among the Genetically Isolated Chechen Subpopulation from Jordan.

Pharmacogenomics And Personalized Medicine
Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB
Publication Date: 2020

Variant appearance in text: rs7626962
PubMed Link: 32765042
Variant Present in the following documents:
  • Main text
  • pgpm-13-199.pdf
View BVdb publication page



Genetic susceptibility for COVID-19-associated sudden cardiac death in African Americans.

Heart Rhythm
Giudicessi, John R JR; Roden, Dan M DM; Wilde, Arthur A M AAM; Ackerman, Michael J MJ
Publication Date: 2020-09

Variant appearance in text: SCN5A: Ser1102Tyr; rs7626962
PubMed Link: 32380288
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic Polymorphisms of Pharmacogenes among the Genetically Isolated Circassian Subpopulation from Jordan.

Journal Of Personalized Medicine
Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB
Publication Date: 2020-01-06

Variant appearance in text: rs7626962
PubMed Link: 31935801
Variant Present in the following documents:
  • Main text
  • jpm-10-00002.pdf
View BVdb publication page



Sudden Cardiac Death (SCD) - risk stratification and prediction with molecular biomarkers.

Journal Of Biomedical Science
Osman, Junaida J; Tan, Shing Cheng SC; Lee, Pey Yee PY; Low, Teck Yew TY; Jamal, Rahman R
Publication Date: 2019-05-22

Variant appearance in text: rs7626962
PubMed Link: 31118017
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.

Molecular Genetics & Genomic Medicine
Zhang, Chan C; Guo, Weiwei W; Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Dai, Run R; Zhu, Linhao L; Chen, Wanlu W
Publication Date: 2019-05

Variant appearance in text: rs7626962
PubMed Link: 30955239
Variant Present in the following documents:
  • Main text
  • MGG3-7-e574.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: SCN5A: S1102Y; rs7626962
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Mechanisms Underlying the Actions of Antidepressant and Antipsychotic Drugs That Cause Sudden Cardiac Arrest.

Arrhythmia & Electrophysiology Review
Sicouri, Serge S; Antzelevitch, Charles C
Publication Date: 2018-08

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 30416734
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Lisu population of southwestern China: A cohort study.

Medicine
Li, Bin B; Wang, Li L; Lei, Lingyu L; Zhang, Mingxiang M; Niu, Fanglin F; Chen, Peng P; Jin, Tianbo T
Publication Date: 2018-09

Variant appearance in text: rs7626962
PubMed Link: 30235667
Variant Present in the following documents:
  • medi-97-e12231.pdf
View BVdb publication page



Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Minoche, Andre E AE; Horvat, Claire C; Johnson, Renee R; Gayevskiy, Velimir V; Morton, Sarah U SU; Drew, Alexander P AP; Woo, Kerhan K; Statham, Aaron L AL; Lundie, Ben B; Bagnall, Richard D RD; Ingles, Jodie J; Semsarian, Christopher C; Seidman, J G JG; Seidman, Christine E CE; Dinger, Marcel E ME; Cowley, Mark J MJ; Fatkin, Diane D
Publication Date: 2019-03

Variant appearance in text: SCN5A: 3305C>A; S1102Y
PubMed Link: 29961767
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms in very important pharmacogenomic variants in the Zhuang ethnic group of Southwestern China: A cohort study in the Zhuang population.

Medicine
Li, Jing J; Guo, Chenghao C; Yan, Mengdan M; Niu, Fanglin F; Chen, Peng P; Li, Bin B; Jin, Tianbo T
Publication Date: 2018-04

Variant appearance in text: SCN5A: Ser1102Tyr; rs7626962
PubMed Link: 29703042
Variant Present in the following documents:
  • medi-97-e0559.pdf
View BVdb publication page



Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

Circulation
Giudicessi, John R JR; Roden, Dan M DM; Wilde, Arthur A M AAM; Ackerman, Michael J MJ
Publication Date: 2018-02-06

Variant appearance in text: rs7626962
PubMed Link: 29431662
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2017-11-24

Variant appearance in text: SCN5A: S1102Y; rs7626962
PubMed Link: 29254223
Variant Present in the following documents:
  • oncotarget-08-102033-s003.xlsx, sheet 1
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: rs7626962
PubMed Link: 28800628
Variant Present in the following documents:
  • Main text
  • pone.0181875.pdf
View BVdb publication page



Germline Genetic Variants and Lung Cancer Survival in African Americans.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Jones, Carissa C CC; Bush, William S WS; Crawford, Dana C DC; Wenzlaff, Angela S AS; Schwartz, Ann G AG; Wiencke, John K JK; Wrensch, Margaret R MR; Blot, William J WJ; Chanock, Stephen J SJ; Grogan, Eric L EL; Aldrich, Melinda C MC
Publication Date: 2017-08

Variant appearance in text: rs7626962
PubMed Link: 28619829
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.

Human Molecular Genetics
Evans, Daniel S DS; Avery, Christy L CL; Nalls, Mike A MA; Li, Guo G; Barnard, John J; Smith, Erin N EN; Tanaka, Toshiko T; Butler, Anne M AM; Buxbaum, Sarah G SG; Alonso, Alvaro A; Arking, Dan E DE; Berenson, Gerald S GS; Bis, Joshua C JC; Buyske, Steven S; Carty, Cara L CL; Chen, Wei W; Chung, Mina K MK; Cummings, Steven R SR; Deo, Rajat R; Eaton, Charles B CB; Fox, Ervin R ER; Heckbert, Susan R SR; Heiss, Gerardo G; Hindorff, Lucia A LA; Hsueh, Wen-Chi WC; Isaacs, Aaron A; Jamshidi, Yalda Y; Kerr, Kathleen F KF; Liu, Felix F; Liu, Yongmei Y; Lohman, Kurt K KK; Magnani, Jared W JW; Maher, Joseph F JF; Mehra, Reena R; Meng, Yan A YA; Musani, Solomon K SK; Newton-Cheh, Christopher C; North, Kari E KE; Psaty, Bruce M BM; Redline, Susan S; Rotter, Jerome I JI; Schnabel, Renate B RB; Schork, Nicholas J NJ; Shohet, Ralph V RV; Singleton, Andrew B AB; Smith, Jonathan D JD; Soliman, Elsayed Z EZ; Srinivasan, Sathanur R SR; Taylor, Herman A HA; Van Wagoner, David R DR; Wilson, James G JG; Young, Taylor T; Zhang, Zhu-Ming ZM; Zonderman, Alan B AB; Evans, Michele K MK; Ferrucci, Luigi L; Murray, Sarah S SS; Tranah, Gregory J GJ; Whitsel, Eric A EA; Reiner, Alex P AP; , ; Sotoodehnia, Nona N
Publication Date: 2016-10-01

Variant appearance in text: rs7626962
PubMed Link: 27577874
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.

Bmc Genetics
Jin, Tianbo T; Shi, Xugang X; Wang, Li L; Wang, Huijuan H; Feng, Tian T; Kang, Longli L
Publication Date: 2016-05-28

Variant appearance in text: rs7626962
PubMed Link: 27233804
Variant Present in the following documents:
  • Main text
  • 12863_2016_Article_379.pdf
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the lhoba population of southwest China.

International Journal Of Clinical And Experimental Pathology
He, Yongjun Y; Yang, Hua H; Geng, Tingting T; Feng, Tian T; Yuan, Dongya D; Kang, Longli L; Luo, Manling M; Jin, Tianbo T
Publication Date: 2015

Variant appearance in text: rs7626962
PubMed Link: 26722533
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs7626962
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Genetic Polymorphisms Analysis of Pharmacogenomic VIP Variants in Miao Ethnic Group of Southwest China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Jin, Tianbo T; Aikemu, Ainiwaer A; Zhang, Mingxi M; Geng, Tingting T; Feng, Tian T; Kang, Longli L; Luo, Man Lin ML
Publication Date: 2015-12-03

Variant appearance in text: rs7626962
PubMed Link: 26632549
Variant Present in the following documents:
  • Main text
  • medscimonit-21-3769.pdf
View BVdb publication page



The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.

Gene
Veerman, Christiaan C CC; Wilde, Arthur A M AA; Lodder, Elisabeth M EM
Publication Date: 2015-12-01

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 26361848
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.

Bmc Genetics
Wang, Li L; Aikemu, Ainiwaer A; Yibulayin, Ayiguli A; Du, Shuli S; Geng, Tingting T; Wang, Bo B; Zhang, Yuan Y; Jin, Tianbo T; Yang, Jie J
Publication Date: 2015-06-20

Variant appearance in text: rs7626962
PubMed Link: 26091847
Variant Present in the following documents:
  • Main text
  • 12863_2015_Article_232.pdf
View BVdb publication page



Replication of SCN5A Associations with Electrocardio-graphic Traits in African Americans from Clinical and Epidemiologic Studies.

Evolutionary Computation, Machine Learning And Data Mining In Bioinformatics. Evobio (Conference)
Jeff, Janina M JM; Brown-Gentry, Kristin K; Goodloe, Robert R; Ritchie, Marylyn D MD; Denny, Joshua C JC; Kho, Abel N AN; Armstrong, Loren L LL; McClellan, Bob B; Mayo, Ping P; Allen, Melissa M; Jin, Hailing H; Gillani, Niloufar B NB; Schnetz-Boutaud, Nathalie N; Dilks, Holli H HH; Basford, Melissa A MA; Pacheco, Jennifer A JA; Jarvik, Gail P GP; Chisholm, Rex L RL; Roden, Dan M DM; Hayes, M Geoffrey MG; Crawford, Dana C DC
Publication Date: 2014

Variant appearance in text: rs7626962
PubMed Link: 25590050
Variant Present in the following documents:
  • Main text
View BVdb publication page



Race, common genetic variation, and therapeutic response disparities in heart failure.

Jacc. Heart Failure
Taylor, Mathew R MR; Sun, Albert Y AY; Davis, Gordon G; Fiuzat, Mona M; Liggett, Stephen B SB; Bristow, Michael R MR
Publication Date: 2014-12

Variant appearance in text: rs7626962
PubMed Link: 25443111
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.

Bmc Genetics
Zhang, Jiayi J; Jin, Tianbo T; Yunus, Zulfiya Z; Li, Xiaolan X; Geng, Tingting T; Wang, Hong H; Cui, Yali Y; Chen, Chao C
Publication Date: 2014-09-30

Variant appearance in text: rs7626962
PubMed Link: 25266489
Variant Present in the following documents:
  • Main text
  • 12863_2014_Article_102.pdf
View BVdb publication page



A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.

Plos One
Hennessey, Jessica A JA; Boczek, Nicole J NJ; Jiang, Yong-Hui YH; Miller, Joelle D JD; Patrick, William W; Pfeiffer, Ryan R; Sutphin, Brittan S BS; Tester, David J DJ; Barajas-Martinez, Hector H; Ackerman, Michael J MJ; Antzelevitch, Charles C; Kanter, Ronald R; Pitt, Geoffrey S GS
Publication Date: 2014

Variant appearance in text: rs7626962
PubMed Link: 25184293
Variant Present in the following documents:
  • Main text
  • pone.0106982.pdf
View BVdb publication page



A common SCN5A variant is associated with PR interval and atrial fibrillation among African Americans.

Journal Of Cardiovascular Electrophysiology
Ilkhanoff, Leonard L; Arking, Dan E DE; Lemaitre, Rozenn N RN; Alonso, Alvaro A; Chen, Lin Y LY; Durda, Peter P; Hesselson, Stephanie E SE; Kerr, Kathleen F KF; Magnani, Jared W JW; Marcus, Gregory M GM; Schnabel, Renate B RB; Smith, J Gustav JG; Soliman, Elsayed Z EZ; Reiner, Alexander P AP; Sotoodehnia, Nona N; ,
Publication Date: 2014-11

Variant appearance in text: SCN5A: S1102Y; rs7626962
PubMed Link: 25065297
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

Circulation. Cardiovascular Genetics
Magnani, Jared W JW; Brody, Jennifer A JA; Prins, Bram P BP; Arking, Dan E DE; Lin, Honghuang H; Yin, Xiaoyan X; Liu, Ching-Ti CT; Morrison, Alanna C AC; Zhang, Feng F; Spector, Tim D TD; Alonso, Alvaro A; Bis, Joshua C JC; Heckbert, Susan R SR; Lumley, Thomas T; Sitlani, Colleen M CM; Cupples, L Adrienne LA; Lubitz, Steven A SA; Soliman, Elsayed Z EZ; Pulit, Sara L SL; Newton-Cheh, Christopher C; O'Donnell, Christopher J CJ; Ellinor, Patrick T PT; Benjamin, Emelia J EJ; Muzny, Donna M DM; Gibbs, Richard A RA; Santibanez, Jireh J; Taylor, Herman A HA; Rotter, Jerome I JI; Lange, Leslie A LA; Psaty, Bruce M BM; Jackson, Rebecca R; Rich, Stephen S SS; Boerwinkle, Eric E; Jamshidi, Yalda Y; Sotoodehnia, Nona N; , ; , ; ,
Publication Date: 2014-06

Variant appearance in text: SCN5A: S1102Y; rs7626962
PubMed Link: 24951663
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs7626962
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic testing to predict sudden cardiac death: current perspectives and future goals.

Indian Heart Journal
Priori, Silvia G SG
Publication Date: 2014

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 24568831
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-environment interaction between SCN5A-1103Y and hypokalemia influences QT interval prolongation in African Americans: the Jackson Heart Study.

American Heart Journal
Akylbekova, Ermeg L EL; Payne, John P JP; Newton-Cheh, Christopher C; May, Warren L WL; Fox, Ervin R ER; Wilson, James G JG; Sarpong, Daniel F DF; Taylor, Herman A HA; Maher, Joseph F JF
Publication Date: 2014-01

Variant appearance in text: rs7626962
PubMed Link: 24332150
Variant Present in the following documents:
  • Main text
View BVdb publication page



PATH-SCAN: a reporting tool for identifying clinically actionable variants.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Daneshjou, Roxana R; Zappala, Zachary Z; Kukurba, Kim K; Boyle, Sean M SM; Ormond, Kelly E KE; Klein, Teri E TE; Snyder, Michael M; Bustamante, Carlos D CD; Altman, Russ B RB; Montgomery, Stephen B SB
Publication Date: 2014

Variant appearance in text: rs7626962
PubMed Link: 24297550
Variant Present in the following documents:
  • Main text
View BVdb publication page



Playing with heart and soul…and genomes: sports implications and applications of personal genomics.

Peerj
Wagner, Jennifer K JK
Publication Date: 2013

Variant appearance in text: rs7626962
PubMed Link: 23940833
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of pro-arrhythmic adverse drug reactions.

British Journal Of Clinical Pharmacology
Petropoulou, Evmorfia E; Jamshidi, Yalda Y; Behr, Elijah R ER
Publication Date: 2014-04

Variant appearance in text: LQT3: S1102Y
PubMed Link: 23834499
Variant Present in the following documents:
  • Main text
View BVdb publication page



Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10

Variant appearance in text: rs7626962
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.

Annals Of Human Genetics
Jeff, Janina M JM; Ritchie, Marylyn D MD; Denny, Joshua C JC; Kho, Abel N AN; Ramirez, Andrea H AH; Crosslin, David D; Armstrong, Loren L; Basford, Melissa A MA; Wolf, Wendy A WA; Pacheco, Jennifer A JA; Chisholm, Rex L RL; Roden, Dan M DM; Hayes, M Geoffrey MG; Crawford, Dana C DC
Publication Date: 2013-07

Variant appearance in text: rs7626962
PubMed Link: 23534349
Variant Present in the following documents:
  • Main text
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Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders
Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A
Publication Date: 2012-10-25

Variant appearance in text: rs7626962
PubMed Link: 23098067
Variant Present in the following documents:
  • 1471-2261-12-95-S2.pdf
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The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction.

Circulation. Cardiovascular Genetics
Sun, Albert Y AY; Koontz, Jason I JI; Shah, Svati H SH; Piccini, Jonathan P JP; Nilsson, Kent R KR; Craig, Damian D; Haynes, Carol C; Gregory, Simon G SG; Hranitzky, Patrick M PM; Pitt, Geoffrey S GS
Publication Date: 2011-04

Variant appearance in text: rs7626962
PubMed Link: 21498565
Variant Present in the following documents:
  • Main text
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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: rs7626962
PubMed Link: 21347284
Variant Present in the following documents:
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Genetics of sudden death.

The Indian Journal Of Medical Research
Naik, Nitish N; Yadav, Rakesh R
Publication Date: 2010-11

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 21150010
Variant Present in the following documents:
  • Main text
  • IJMR-132-579.pdf
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SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr.

Bmc Medical Genetics
Killen, Stacy A S SA; Kunic, Jennifer J; Wang, Lily L; Lewis, Adele A; Levy, Bruce P BP; Ackerman, Michael J MJ; George, Alfred L AL
Publication Date: 2010-05-14

Variant appearance in text: SCN5A: Ser1102Tyr
PubMed Link: 20470418
Variant Present in the following documents:
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Torsades de pointes during complete atrioventricular block: Genetic factors and electrocardiogram correlates.

The Canadian Journal Of Cardiology
Subbiah, Rajesh N RN; Gollob, Michael H MH; Gula, Lorne J LJ; Davies, Robert W RW; Leong-Sit, Peter P; Skanes, Allan C AC; Yee, Raymond R; Klein, George J GJ; Krahn, Andrew D AD
Publication Date: 2010-04

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 20386770
Variant Present in the following documents:
  • Main text
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Sudden cardiac death: epidemiology and risk factors.

Nature Reviews. Cardiology
Adabag, A Selcuk AS; Luepker, Russell V RV; Roger, Véronique L VL; Gersh, Bernard J BJ
Publication Date: 2010-04

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 20142817
Variant Present in the following documents:
  • Main text
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Common genetic variants in sudden cardiac death.

Heart Rhythm
George, Alfred L AL
Publication Date: 2009-11

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 19880071
Variant Present in the following documents:
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Clinical correlates and heritability of QT interval duration in blacks: the Jackson Heart Study.

Circulation. Arrhythmia And Electrophysiology
Akylbekova, Ermeg L EL; Crow, Richard S RS; Johnson, William D WD; Buxbaum, Sarah G SG; Njemanze, Stephanie S; Fox, Ervin E; Sarpong, Daniel F DF; Taylor, Herman A HA; Newton-Cheh, Christopher C
Publication Date: 2009-08

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 19808499
Variant Present in the following documents:
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Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.

Heart Rhythm
Smith, J Gustav JG; Lowe, Jennifer K JK; Kovvali, Sirisha S; Maller, Julian B JB; Salit, Jacqueline J; Daly, Mark J MJ; Stoffel, Markus M; Altshuler, David M DM; Friedman, Jeffrey M JM; Breslow, Jan L JL; Newton-Cheh, Christopher C
Publication Date: 2009-05

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 19389651
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: SCN5A: S1102Y
PubMed Link: 19305408
Variant Present in the following documents:
  • Main text
  • nihms100620.pdf
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In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Genomic Medicine
Sudandiradoss, C C; Sethumadhavan, Rao R
Publication Date: 2008-12

Variant appearance in text: rs7626962
PubMed Link: 19214780
Variant Present in the following documents:
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Sudden infant death syndrome: do ion channels play a role?

Heart Rhythm
Van Norstrand, David W DW; Ackerman, Michael J MJ
Publication Date: 2009-02

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 18823823
Variant Present in the following documents:
  • Main text
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Clinical use of and future perspectives on antiarrhythmic drugs.

European Journal Of Clinical Pharmacology
Estrada, Juan Carlos JC; Darbar, Dawood D
Publication Date: 2008-12

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 18762931
Variant Present in the following documents:
  • Main text
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Drug-induced spatial dispersion of repolarization.

Cardiology Journal
Antzelevitch, Charles C
Publication Date: 2008

Variant appearance in text: SCN5A: S1102Y
PubMed Link: 18651395
Variant Present in the following documents:
  • Main text
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