CACNA1C c.49+15884C>T

Variant ID: 12-2178661-C-T

NM_000719.6(CACNA1C):c.49+15884C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms.

Frontiers In Genetics
Kulminski, Alexander M AM; Loika, Yury Y; Huang, Jian J; Arbeev, Konstantin G KG; Bagley, Olivia O; Ukraintseva, Svetlana S; Yashin, Anatoliy I AI; Culminskaya, Irina I
Publication Date: 2019

Variant appearance in text: rs2238018
PubMed Link: 31134135
Variant Present in the following documents:
  • Main text
  • fgene-10-00433.pdf
View BVdb publication page



Modeling susceptibility to drug-induced long QT with a panel of subject-specific induced pluripotent stem cells.

Elife
Stillitano, Francesca F; Hansen, Jens J; Kong, Chi-Wing CW; Karakikes, Ioannis I; Funck-Brentano, Christian C; Geng, Lin L; Scott, Stuart S; Reynier, Stephan S; Wu, Ma M; Valogne, Yannick Y; Desseaux, Carole C; Salem, Joe-Elie JE; Jeziorowska, Dorota D; Zahr, Noël N; Li, Ronald R; Iyengar, Ravi R; Hajjar, Roger J RJ; Hulot, Jean-Sébastien JS
Publication Date: 2017-01-30

Variant appearance in text: rs2238018
PubMed Link: 28134617
Variant Present in the following documents:
  • Main text
  • elife-19406.pdf
View BVdb publication page



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: rs2238018
PubMed Link: 22100668
Variant Present in the following documents:
  • Main text
View BVdb publication page