SCN5A c.-52-3651G>C

Variant ID: 3-38678501-C-G

NM_000335.4(SCN5A):c.-52-3651G>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes.

Circulation. Cardiovascular Genetics
Kääb, Stefan S; Crawford, Dana C DC; Sinner, Moritz F MF; Behr, Elijah R ER; Kannankeril, Prince J PJ; Wilde, Arthur A M AA; Bezzina, Connie R CR; Schulze-Bahr, Eric E; Guicheney, Pascale P; Bishopric, Nanette H NH; Myerburg, Robert J RJ; Schott, Jean-Jacques JJ; Pfeufer, Arne A; Beckmann, Britt-Maria BM; Martens, Eimo E; Zhang, Taifang T; Stallmeyer, Birgit B; Zumhagen, Sven S; Denjoy, Isabelle I; Bardai, Abdennasser A; Van Gelder, Isabelle C IC; Jamshidi, Yalda Y; Dalageorgou, Chrysoula C; Marshall, Vanessa V; Jeffery, Steve S; Shakir, Saad S; Camm, A John AJ; Steinbeck, Gerhard G; Perz, Siegfried S; Lichtner, Peter P; Meitinger, Thomas T; Peters, Annette A; Wichmann, H-Erich HE; Ingram, Christiana C; Bradford, Yuki Y; Carter, Shannon S; Norris, Kris K; Ritchie, Marylyn D MD; George, Alfred L AL; Roden, Dan M DM
Publication Date: 2012-02-01

Variant appearance in text: rs7427106
PubMed Link: 22100668
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs7427106
PubMed Link: 19214780
Variant Present in the following documents:
  • Main text
View BVdb publication page



A high-density association screen of 155 ion transport genes for involvement with common migraine.

Human Molecular Genetics
Nyholt, Dale R DR; LaForge, K Steven KS; Kallela, Mikko M; Alakurtti, Kirsi K; Anttila, Verneri V; Färkkilä, Markus M; Hämaläinen, Eija E; Kaprio, Jaakko J; Kaunisto, Mari A MA; Heath, Andrew C AC; Montgomery, Grant W GW; Göbel, Hartmut H; Todt, Unda U; Ferrari, Michel D MD; Launer, Lenore J LJ; Frants, Rune R RR; Terwindt, Gisela M GM; de Vries, Boukje B; Verschuren, W M Monique WM; Brand, Jan J; Freilinger, Tobias T; Pfaffenrath, Volker V; Straube, Andreas A; Ballinger, Dennis G DG; Zhan, Yiping Y; Daly, Mark J MJ; Cox, David R DR; Dichgans, Martin M; van den Maagdenberg, Arn M J M AM; Kubisch, Christian C; Martin, Nicholas G NG; Wessman, Maija M; Peltonen, Leena L; Palotie, Aarno A
Publication Date: 2008-11-01

Variant appearance in text: rs7427106
PubMed Link: 18676988
Variant Present in the following documents:
  • Main text
View BVdb publication page