KCNH2 c.243G>C ;(p.Q81H)

Variant ID: 7-150671863-C-G

NM_000238.3(KCNH2):c.243G>C;(p.Q81H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Journal Of Arrhythmia
Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Juang, Jyh-Ming Jimmy JJ; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW
Publication Date: 2021-06

Variant appearance in text: KCNH2: Q81H
PubMed Link: 34141003
Variant Present in the following documents:
  • JOA3-37-481-s001.pdf
View BVdb publication page



2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Heart Rhythm
Stiles, Martin K MK; Wilde, Arthur A M AAM; Abrams, Dominic J DJ; Ackerman, Michael J MJ; Albert, Christine M CM; Behr, Elijah R ER; Chugh, Sumeet S SS; Cornel, Martina C MC; Gardner, Karen K; Ingles, Jodie J; James, Cynthia A CA; Jimmy Juang, Jyh-Ming JM; Kääb, Stefan S; Kaufman, Elizabeth S ES; Krahn, Andrew D AD; Lubitz, Steven A SA; MacLeod, Heather H; Morillo, Carlos A CA; Nademanee, Koonlawee K; Probst, Vincent V; Saarel, Elizabeth V EV; Sacilotto, Luciana L; Semsarian, Christopher C; Sheppard, Mary N MN; Shimizu, Wataru W; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; Wang, Dao Wu DW
Publication Date: 2021-01

Variant appearance in text: KCNH2: Q81H
PubMed Link: 33091602
Variant Present in the following documents:
  • NIHMS1704401-supplement-supplementary_Appendix_3.pdf
View BVdb publication page



Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.

Plos One
Marcondes, Luciana L; Crawford, Jackie J; Earle, Nikki N; Smith, Warren W; Hayes, Ian I; Morrow, Paul P; Donoghue, Tom T; Graham, Amanda A; Love, Donald D; Skinner, Jonathan R JR; ,
Publication Date: 2018

Variant appearance in text: KCNH2: 243G>C; Gln81His
PubMed Link: 29672598
Variant Present in the following documents:
  • Main text
  • pone.0196078.pdf
View BVdb publication page