SCN5A c.3266C>A ;(p.P1089Q)

Variant ID: 3-38620946-G-T

NM_000335.4(SCN5A):c.3266C>A;(p.P1089Q)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2022-08-30

Variant appearance in text: SCN5A: 3266C>A; Pro1089Gln; rs1805125
PubMed Link: 36042188
Variant Present in the following documents:
  • 41467_2022_32009_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study.

Annals Of Translational Medicine
Shen, Cheng C; Xu, Lei L; Sun, Xiaoning X; Sun, Aijun A; Ge, Junbo J
Publication Date: 2022-02

Variant appearance in text: rs1805125
PubMed Link: 35284542
Variant Present in the following documents:
  • Main text
  • atm-10-03-129-supplementary.pdf
  • atm-10-03-129.pdf
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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: rs1805125
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: rs1805125
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Journal Of The American Heart Association
Chahal, C Anwar A CAA; Salloum, Mohammad N MN; Alahdab, Fares F; Gottwald, Joseph A JA; Tester, David J DJ; Anwer, Lucman A LA; So, Elson L EL; Murad, Mohammad Hassan MH; St Louis, Erik K EK; Ackerman, Michael J MJ; Somers, Virend K VK
Publication Date: 2020-01-07

Variant appearance in text: rs1805125
PubMed Link: 31865891
Variant Present in the following documents:
  • JAH3-9-e012264.pdf
  • JAH3-9-e012264-s001.pdf
View BVdb publication page



Sudden Unexplained Nocturnal Death Syndrome: The Hundred Years' Enigma.

Journal Of The American Heart Association
Zheng, Jingjing J; Zheng, Da D; Su, Terry T; Cheng, Jianding J
Publication Date: 2018-03-03

Variant appearance in text: rs1805125
PubMed Link: 29502107
Variant Present in the following documents:
  • JAH3-7-e007837.pdf
  • JAH3-7-e007837-s001.pdf
View BVdb publication page



Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Scientific Reports
Wang, Yimin Y; Du, Xiaonan X; Bin, Rao R; Yu, Shanshan S; Xia, Zhezhi Z; Zheng, Guo G; Zhong, Jianmin J; Zhang, Yunjian Y; Jiang, Yong-Hui YH; Wang, Yi Y
Publication Date: 2017-01-11

Variant appearance in text: rs1805125
PubMed Link: 28074849
Variant Present in the following documents:
  • srep40319-s4.xls, sheet 1
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: rs1805125
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.

Scientific Reports
Juang, Jyh-Ming Jimmy JM; Lu, Tzu-Pin TP; Lai, Liang-Chuan LC; Hsueh, Chia-Hsiang CH; Liu, Yen-Bin YB; Tsai, Chia-Ti CT; Lin, Lian-Yu LY; Yu, Chih-Chieh CC; Hwang, Juey-Jen JJ; Chiang, Fu-Tien FT; Yeh, Sherri Shih-Fan SS; Chen, Wen-Pin WP; Chuang, Eric Y EY; Lai, Ling-Ping LP; Lin, Jiunn-Lee JL
Publication Date: 2014-01-27

Variant appearance in text: rs1805125
PubMed Link: 24463578
Variant Present in the following documents:
  • Main text
  • srep03850.pdf
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs1805125
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
View BVdb publication page



Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.

Brain Pathology (Zurich, Switzerland)
Tu, Emily E; Bagnall, Richard D RD; Duflou, Johan J; Semsarian, Christopher C
Publication Date: 2011-03

Variant appearance in text: rs1805125
PubMed Link: 20875080
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Zhang, Yu Y; Chang, Bingxi B; Hu, Songnian S; Wang, Duenmei D; Fang, Quan Q; Huang, Xianyong X; Zeng, Qiang Q; Qi, Ming M
Publication Date: 2008-04

Variant appearance in text: rs1805125
PubMed Link: 18426444
Variant Present in the following documents:
  • Main text
View BVdb publication page