KCNH2 c.1969G>A ;(p.G657S)

Variant ID: 7-150648185-C-T

NM_000238.3(KCNH2):c.1969G>A;(p.G657S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: KCNH2: 1969G>A; Gly657Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine
Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W
Publication Date: 2022

Variant appearance in text: LQT2: G657S
PubMed Link: 36277779
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: KCNH2: 1969G>A; Gly657Ser
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: KCNH2: 1969G>A; Gly657Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.

The Journal Of Physiology
Perry, Matthew D MD; Ng, Chai Ann CA; Phan, Kevin K; David, Erikka E; Steer, Kieran K; Hunter, Mark J MJ; Mann, Stefan A SA; Imtiaz, Mohammad M; Hill, Adam P AP; Ke, Ying Y; Vandenberg, Jamie I JI
Publication Date: 2016-07-15

Variant appearance in text: Kv11.1: G657S
PubMed Link: 26958806
Variant Present in the following documents:
  • Main text
View BVdb publication page