KCNQ1 c.518T>A ;(p.V173D)

Variant ID: 11-2591898-T-A

NM_000218.2(KCNQ1):c.518T>A;(p.V173D)

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: 518T>A; Val173Asp
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: 518T>A; V173D; rs199472695
PubMed Link: 34398675
Variant Present in the following documents:
  • Main text
  • JAH3-10-e021236.pdf
  • JAH3-10-e021236-s001.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: 518T>A; V173D; rs199472695
PubMed Link: 34398675
Variant Present in the following documents:
  • Main text
  • JAH3-10-e021236.pdf
  • JAH3-10-e021236-s001.pdf
View BVdb publication page



Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: KCNQ1: Val173Asp; rs199472695
PubMed Link: 33262486
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_741.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: V173D
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
  • Table_1.xlsx, sheet 1
View BVdb publication page