KCNQ1 c.1514+6982A>G

Variant ID: 11-2690293-A-G

NM_000218.2(KCNQ1):c.1514+6982A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs151212
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs151212
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
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: rs151212
PubMed Link: 28134617
Variant Present in the following documents:
  • Main text
  • elife-19406.pdf
View BVdb publication page