KCNH2 c.2960del ;(p.L987Rfs*70)

Variant ID: 7-150644699-CA-C

NM_000238.3(KCNH2):c.2960del;(p.L987Rfs*70)

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: LQT2: 2960del
PubMed Link: 35647048
Variant Present in the following documents:
  • Main text
  • fcvm-09-889519.pdf
View BVdb publication page



QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.

Journal Of The American Heart Association
Seethala, Srikanth S; Singh, Prabhpreet P; Shusterman, Vladimir V; Ribe, Margareth M; Haugaa, Kristina H KH; Němec, Jan J
Publication Date: 2015-12-16

Variant appearance in text: LQT2: 2960delT
PubMed Link: 26675252
Variant Present in the following documents:
  • Main text
  • JAH3-4-e002395.pdf
View BVdb publication page