SCN5A c.3229-254G>C

Variant ID: 3-38621237-C-G

NM_000335.4(SCN5A):c.3229-254G>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genome-wide analyses identify SCN5A as a susceptibility locus for premature atrial contraction frequency.

Iscience
Thériault, Sébastien S; Imboden, Medea M; Biggs, Mary L ML; Austin, Thomas R TR; Aeschbacher, Stefanie S; Schaffner, Emmanuel E; Brody, Jennifer A JA; Bartz, Traci M TM; Risch, Martin M; Grossmann, Kirsten K; Lin, Henry J HJ; Soliman, Elsayed Z EZ; Post, Wendy S WS; Risch, Lorenz L; Krieger, Jose E JE; Pereira, Alexandre C AC; Heckbert, Susan R SR; Sotoodehnia, Nona N; Probst-Hensch, Nicole M NM; Conen, David D
Publication Date: 2022-10-21

Variant appearance in text: rs41312411
PubMed Link: 36267918
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Heart Enhancers: Development and Disease Control at a Distance.

Frontiers In Genetics
Yuan, Xuefei X; Scott, Ian C IC; Wilson, Michael D MD
Publication Date: 2021

Variant appearance in text: rs41312411
PubMed Link: 33777110
Variant Present in the following documents:
  • Main text
  • fgene-12-642975.pdf
View BVdb publication page



The Genetic Makeup of the Electrocardiogram.

Cell Systems
Verweij, Niek N; Benjamins, Jan-Walter JW; Morley, Michael P MP; van de Vegte, Yordi J YJ; Teumer, Alexander A; Trenkwalder, Teresa T; Reinhard, Wibke W; Cappola, Thomas P TP; van der Harst, Pim P
Publication Date: 2020-09-23

Variant appearance in text: rs41312411
PubMed Link: 32916098
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epigenomic and Transcriptomic Dynamics During Human Heart Organogenesis.

Circulation Research
VanOudenhove, Jennifer J; Yankee, Tara N TN; Wilderman, Andrea A; Cotney, Justin J
Publication Date: 2020-10-09

Variant appearance in text: rs41312411
PubMed Link: 32772801
Variant Present in the following documents:
  • Main text
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: rs41312411
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: rs41312411
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Genomics of Cardiovascular Measures of Autonomic Tone.

Journal Of Cardiovascular Pharmacology
Sigurdsson, Martin I MI; Waldron, Nathan H NH; Bortsov, Andrey V AV; Smith, Shad B SB; Maixner, William W
Publication Date: 2018-03

Variant appearance in text: rs41312411
PubMed Link: 29300220
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: rs41312411
PubMed Link: 28794112
Variant Present in the following documents:
  • Main text
View BVdb publication page