KCNQ1 c.1096_1097delinsTA ;(p.R366*)

Variant ID: 11-2606505-CG-TA

NM_000218.2(KCNQ1):c.1096_1097delinsTA;(p.R366*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine
Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J
Publication Date: 2022

Variant appearance in text: LQT1: R366X
PubMed Link: 35647048
Variant Present in the following documents:
  • fcvm-09-889519.pdf
View BVdb publication page



Inherited cardiac diseases, pluripotent stem cells, and genome editing combined-the past, present, and future.

Stem Cells (Dayton, Ohio)
van den Brink, Lettine L; Grandela, Catarina C; Mummery, Christine L CL; Davis, Richard P RP
Publication Date: 2020-02

Variant appearance in text: LQT1: R366X
PubMed Link: 31664757
Variant Present in the following documents:
  • STEM-38-174-s001.pdf
View BVdb publication page