KCNQ1 c.386+35612G>A

Variant ID: 11-2502326-G-A

NM_000218.2(KCNQ1):c.386+35612G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs11022996
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: rs11022996
PubMed Link: 28134617
Variant Present in the following documents:
  • Main text
  • elife-19406.pdf
View BVdb publication page



Sex-Specific Genetic Variants are Associated With Coronary Endothelial Dysfunction.

Journal Of The American Heart Association
Yoshino, Satoshi S; Cilluffo, Rebecca R; Prasad, Megha M; Best, Patricia J M PJ; Atkinson, Elizabeth J EJ; Aoki, Tatsuo T; Cunningham, Julie M JM; de Andrade, Mariza M; Lerman, Lilach O LO; Lerman, Amir A
Publication Date: 2016-04-18

Variant appearance in text: rs11022996
PubMed Link: 27091178
Variant Present in the following documents:
  • JAH3-5-e002544.pdf
View BVdb publication page