KCNH2 c.364G>A ;(p.V122I)

Variant ID: 7-150656768-C-T

NM_000238.3(KCNH2):c.364G>A;(p.V122I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

Medrxiv : The Preprint Server For Health Sciences
Josephs, Katherine S KS; Roberts, Angharad M AM; Theotokis, Pantazis P; Walsh, Roddy R; Ostrowski, Philip J PJ; Edwards, Matthew M; Fleming, Andrew A; Thaxton, Courtney C; Roberts, Jason D JD; Care, Melanie M; Zareba, Wojciech W; Adler, Arnon A; Sturm, Amy C AC; Tadros, Rafik R; Novelli, Valeria V; Owens, Emma E; Bronicki, Lucas L; Jarinova, Olga O; Callewaert, Bert B; Peters, Stacey S; Lumbers, Tom T; Jordan, Elizabeth E; Asatryan, Babken B; Krishnan, Neesha N; Hershberger, Ray E RE; Chahal, C Anwar A CAA; Landstrom, Andrew P AP; James, Cynthia C; McNally, Elizabeth M EM; Judge, Daniel P DP; van Tintelen, Peter P; Wilde, Arthur A; Gollob, Michael M; Ingles, Jodie J; Ware, James S JS
Publication Date: 2023-04-03

Variant appearance in text: KCNH2: Val122Ile
PubMed Link: 37066275
Variant Present in the following documents:
  • media-2.xlsx, sheet 2
View BVdb publication page



European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.

Journal Of Arrhythmia
Wilde, Arthur A M AAM; Semsarian, Christopher C; Márquez, Manlio F MF; Sepehri Shamloo, Alireza A; Ackerman, Michael J MJ; Ashley, Euan A EA; Sternick Eduardo, Back B; Barajas-Martinez, Héctor H; Behr, Elijah R ER; Bezzina, Connie R CR; Breckpot, Jeroen J; Charron, Philippe P; Chockalingam, Priya P; Crotti, Lia L; Gollob, Michael H MH; Lubitz, Steven S; Makita, Naomasa N; Ohno, Seiko S; Ortiz-Genga, Martín M; Sacilotto, Luciana L; Schulze-Bahr, Eric E; Shimizu, Wataru W; Sotoodehnia, Nona N; Tadros, Rafik R; Ware, James S JS; Winlaw, David S DS; Kaufman, Elizabeth S ES; Aiba, Takeshi T; Bollmann, Andreas A; Choi, Jong-Il JI; Dalal, Aarti A; Darrieux, Francisco F; Giudicessi, John J; Guerchicoff, Mariana M; Hong, Kui K; Krahn, Andrew D AD; Mac Intyre, Ciorsti C; Mackall, Judith A JA; Mont, Lluís L; Napolitano, Carlo C; Ochoa Juan, Pablo P; Peichl, Petr P; Pereira, Alexandre C AC; Schwartz, Peter J PJ; Skinner, Jon J; Stellbrink, Christoph C; Tfelt-Hansen, Jacob J; Deneke, Thomas T
Publication Date: 2022-08

Variant appearance in text: KCNH2: V122I
PubMed Link: 35936045
Variant Present in the following documents:
  • JOA3-38-491.pdf
View BVdb publication page



Sex-Related Differences in Genetic Cardiomyopathies.

Journal Of The American Heart Association
Argirò, Alessia A; Ho, Carolyn C; Day, Sharlene M SM; van der Velden, Jolanda J; Cerbai, Elisabetta E; Saberi, Sara S; Tardiff, Jil C JC; Lakdawala, Neal K NK; Olivotto, Iacopo I
Publication Date: 2022-05-03

Variant appearance in text: KCNH2: Val122Ile
PubMed Link: 35470690
Variant Present in the following documents:
  • Main text
  • JAH3-11-e024947.pdf
View BVdb publication page



European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.

Europace : European Pacing, Arrhythmias, And Cardiac Electrophysiology : Journal Of The Working Groups On Cardiac Pacing, Arrhythmias, And Cardiac Cellular Electrophysiology Of The European Society Of Cardiology
Wilde, Arthur A M AAM; Semsarian, Christopher C; Márquez, Manlio F MF; Shamloo, Alireza Sepehri AS; Ackerman, Michael J MJ; Ashley, Euan A EA; Sternick, Eduardo Back EB; Barajas-Martinez, Héctor H; Behr, Elijah R ER; Bezzina, Connie R CR; Breckpot, Jeroen J; Charron, Philippe P; Chockalingam, Priya P; Crotti, Lia L; Gollob, Michael H MH; Lubitz, Steven S; Makita, Naomasa N; Ohno, Seiko S; Ortiz-Genga, Martín M; Sacilotto, Luciana L; Schulze-Bahr, Eric E; Shimizu, Wataru W; Sotoodehnia, Nona N; Tadros, Rafik R; Ware, James S JS; Winlaw, David S DS; Kaufman, Elizabeth S ES; , ; Aiba, Takeshi T; Bollmann, Andreas A; Choi, Jong Il JI; Dalal, Aarti A; Darrieux, Francisco F; Giudicessi, John J; Guerchicoff, Mariana M; Hong, Kui K; Krahn, Andrew D AD; MacIntyre, Ciorsti C; Mackall, Judith A JA; Mont, Lluís L; Napolitano, Carlo C; Ochoa, Juan Pablo JP; Peichl, Petr P; Pereira, Alexandre C AC; Schwartz, Peter J PJ; Skinner, Jon J; Stellbrink, Christoph C; Tfelt-Hansen, Jacob J; Deneke, Thomas T; ,
Publication Date: 2022-09-01

Variant appearance in text: KCNH2: V122I
PubMed Link: 35373836
Variant Present in the following documents:
  • euac030.pdf
View BVdb publication page



Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Journal Of The American Heart Association
Pottinger, Tess D TD; Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Robinson, Avery A; Kearns, Samuel S; Pacheco, Jennifer A JA; Rasmussen-Torvik, Laura J LJ; Smith, Maureen E ME; Chisholm, Rex R; McNally, Elizabeth M EM
Publication Date: 2020-02-04

Variant appearance in text: KCNH2: V122I
PubMed Link: 32009526
Variant Present in the following documents:
  • Main text
  • JAH3-9-e013808.pdf
View BVdb publication page



Functional Amyloid Signaling via the Inflammasome, Necrosome, and Signalosome: New Therapeutic Targets in Heart Failure.

Frontiers In Cardiovascular Medicine
Parry, Traci L TL; Melehani, Jason H JH; Ranek, Mark J MJ; Willis, Monte S MS
Publication Date: 2015

Variant appearance in text: HERG: V122I
PubMed Link: 26664897
Variant Present in the following documents:
  • Main text
View BVdb publication page