KCNQ1 c.386+12481C>T

Variant ID: 11-2479195-C-T

NM_000218.2(KCNQ1):c.386+12481C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The Role of Genetic Variants in the Susceptibility of Noise-Induced Hearing Loss.

Frontiers In Cellular Neuroscience
Chen, Xue-Min XM; Xue, Xin-Miao XM; Yu, Ning N; Guo, Wei-Wei WW; Yuan, Shuo-Long SL; Jiang, Qing-Qing QQ; Yang, Shi-Ming SM
Publication Date: 2022

Variant appearance in text: rs11022922
PubMed Link: 35903368
Variant Present in the following documents:
  • Main text
  • fncel-16-946206.pdf
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Noise-Induced Hearing Loss: Updates on Molecular Targets and Potential Interventions.

Neural Plasticity
Mao, Huanyu H; Chen, Yan Y
Publication Date: 2021

Variant appearance in text: rs11022922
PubMed Link: 34306060
Variant Present in the following documents:
  • Main text
  • NP2021-4784385.pdf
View BVdb publication page



Application of a combination of a knowledge-based algorithm and 2-stage screening to hypothesis-free genomic data on irinotecan-treated patients for identification of a candidate single nucleotide polymorphism related to an adverse effect.

Plos One
Takahashi, Hiro H; Sai, Kimie K; Saito, Yoshiro Y; Kaniwa, Nahoko N; Matsumura, Yasuhiro Y; Hamaguchi, Tetsuya T; Shimada, Yasuhiro Y; Ohtsu, Atsushi A; Yoshino, Takayuki T; Doi, Toshihiko T; Okuda, Haruhiro H; Ichinohe, Risa R; Takahashi, Anna A; Doi, Ayano A; Odaka, Yoko Y; Okuyama, Misuzu M; Saijo, Nagahiro N; Sawada, Jun-ichi J; Sakamoto, Hiromi H; Yoshida, Teruhiko T
Publication Date: 2014

Variant appearance in text: rs11022922
PubMed Link: 25127363
Variant Present in the following documents:
  • Main text
  • pone.0105160.pdf
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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: rs11022922
PubMed Link: 22100668
Variant Present in the following documents:
  • Main text
View BVdb publication page



Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.

European Journal Of Human Genetics : Ejhg
Alders, Marielle M; Bliek, Jet J; vd Lip, Karin K; vd Bogaard, Ruud R; Mannens, Marcel M
Publication Date: 2009-04

Variant appearance in text: rs11022922
PubMed Link: 18854861
Variant Present in the following documents:
  • Main text
View BVdb publication page