KCNQ1 c.782A>G ;(p.E261G)

Variant ID: 11-2594077-A-G

NM_000218.2(KCNQ1):c.782A>G;(p.E261G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 782A>G; Glu261Gly
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Territory-Wide Chinese Cohort of Long QT Syndrome: Random Survival Forest and Cox Analyses.

Frontiers In Cardiovascular Medicine
Tse, Gary G; Lee, Sharen S; Zhou, Jiandong J; Liu, Tong T; Wong, Ian Chi Kei ICK; Mak, Chloe C; Mok, Ngai Shing NS; Jeevaratnam, Kamalan K; Zhang, Qingpeng Q; Cheng, Shuk Han SH; Wong, Wing Tak WT
Publication Date: 2021

Variant appearance in text: KCNQ1: 782A>G
PubMed Link: 33614747
Variant Present in the following documents:
  • Main text
  • fcvm-08-608592.pdf
View BVdb publication page