KCNQ1 c.847G>A ;(p.A283T)

Variant ID: 11-2594142-G-A

NM_000218.2(KCNQ1):c.847G>A;(p.A283T)

This variant was identified in 4 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: 847G>A; Ala283Thr
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.

Journal Of The American Heart Association
Kasak, Laura L; Rull, Kristiina K; Yang, Tao T; Roden, Dan M DM; Laan, Maris M
Publication Date: 2021-09-07

Variant appearance in text: KCNQ1: 847G>A; A283T
PubMed Link: 34398675
Variant Present in the following documents:
  • Main text
  • JAH3-10-e021236.pdf
View BVdb publication page



Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.

Journal Of The American Heart Association
Kasak, Laura L; Rull, Kristiina K; Yang, Tao T; Roden, Dan M DM; Laan, Maris M
Publication Date: 2021-09-07

Variant appearance in text: KCNQ1: 847G>A; A283T
PubMed Link: 34398675
Variant Present in the following documents:
  • Main text
  • JAH3-10-e021236.pdf
View BVdb publication page



Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: KCNQ1: A283T
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page



Long QT syndrome-associated mutations in intrauterine fetal death.

Jama
Crotti, Lia L; Tester, David J DJ; White, Wendy M WM; Bartos, Daniel C DC; Insolia, Roberto R; Besana, Alessandra A; Kunic, Jennifer D JD; Will, Melissa L ML; Velasco, Ellyn J EJ; Bair, Jennifer J JJ; Ghidoni, Alice A; Cetin, Irene I; Van Dyke, Daniel L DL; Wick, Myra J MJ; Brost, Brian B; Delisle, Brian P BP; Facchinetti, Fabio F; George, Alfred L AL; Schwartz, Peter J PJ; Ackerman, Michael J MJ
Publication Date: 2013-04-10

Variant appearance in text: LQT1: 847G>A
PubMed Link: 23571586
Variant Present in the following documents:
  • Main text
View BVdb publication page