KCNH2 c.3040C>T ;(p.R1014*)

Variant ID: 7-150644528-G-A

NM_000238.3(KCNH2):c.3040C>T;(p.R1014*)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia
Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S
Publication Date: 2023-06

Variant appearance in text: KCNH2: 3040C>T; rs794728403
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
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A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124.

Biomedicines
Chen, Chia-Chi CC; Liao, Ruo-Yu RY; Yeh, Fang-Yu FY; Lin, Yu-Rou YR; Wu, Tze-You TY; Pastor, Alexa Escobar AE; Zul, Danny Danilo DD; Hsu, Yun-Chien YC; Wu, Kuan-Yo KY; Liu, Ke-Fang KF; Kannagi, Reiji R; Chen, Jang-Yi JY; Cai, Bi-He BH
Publication Date: 2023-04-28

Variant appearance in text: HERG: R1014X
PubMed Link: 37238980
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01310.pdf
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Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine
Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W
Publication Date: 2022

Variant appearance in text: LQT2: R1014X
PubMed Link: 36277779
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome.

Frontiers In Cardiovascular Medicine
Rieder, Marina M; Kreifels, Paul P; Stuplich, Judith J; Ziupa, David D; Servatius, Helge H; Nicolai, Luisa L; Castiglione, Alessandro A; Zweier, Christiane C; Asatryan, Babken B; Odening, Katja E KE
Publication Date: 2022

Variant appearance in text: KCNH2: Arg1014*
PubMed Link: 35911527
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)
Michorowska, Sylwia S
Publication Date: 2021-08-09

Variant appearance in text: HERG: R1014X
PubMed Link: 34451881
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00785.pdf
View BVdb publication page



Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.

Circulation. Genomic And Precision Medicine
Choi, Seung Hoan SH; Jurgens, Sean J SJ; Haggerty, Christopher M CM; Hall, Amelia W AW; Halford, Jennifer L JL; Morrill, Valerie N VN; Weng, Lu-Chen LC; Lagerman, Braxton B; Mirshahi, Tooraj T; Pettinger, Mary M; Guo, Xiuqing X; Lin, Henry J HJ; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Kornej, Jelena J; Lin, Honghuang H; Moscati, Arden A; Nadkarni, Girish N GN; Brody, Jennifer A JA; Wiggins, Kerri L KL; Cade, Brian E BE; Lee, Jiwon J; Austin-Tse, Christina C; Blackwell, Tom T; Chaffin, Mark D MD; Lee, Christina J-Y CJ; Rehm, Heidi L HL; Roselli, Carolina C; , ; Redline, Susan S; Mitchell, Braxton D BD; Sotoodehnia, Nona N; Psaty, Bruce M BM; Heckbert, Susan R SR; Loos, Ruth J F RJF; Vasan, Ramachandran S RS; Benjamin, Emelia J EJ; Correa, Adolfo A; Boerwinkle, Eric E; Arking, Dan E DE; Rotter, Jerome I JI; Rich, Stephen S SS; Whitsel, Eric A EA; Perez, Marco M; Kooperberg, Charles C; Fornwalt, Brandon K BK; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA; ,
Publication Date: 2021-08

Variant appearance in text: KCNH2: 3040C>T
PubMed Link: 34319147
Variant Present in the following documents:
  • hcg-14-e003300-s001.pdf
View BVdb publication page



Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR
Publication Date: 2021-01

Variant appearance in text: KCNH2: 3040C>T; Arg1014*
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Reclassification of genetic variants in children with long QT syndrome.

Molecular Genetics & Genomic Medicine
Westphal, Dominik S DS; Burkard, Tobias T; Moscu-Gregor, Alexander A; Gebauer, Roman R; Hessling, Gabriele G; Wolf, Cordula M CM
Publication Date: 2020-09

Variant appearance in text: KCNH2: 3040C>T; Arg1014*
PubMed Link: 32383558
Variant Present in the following documents:
  • MGG3-8-e1300-s001.xlsx, sheet 1
View BVdb publication page



Stop codons and the +4 nucleotide may influence the efficiency of G418 in rescuing nonsense mutations of the HERG gene.

International Journal Of Molecular Medicine
Yu, Haiyun H; Meng, Yanhai Y; Zhang, Shuhong S; Tian, Chen C; Wu, Fang F; Li, Ning N; Li, Qiuyang Q; Jin, Yulan Y; Pu, Jielin J
Publication Date: 2019-12

Variant appearance in text: HERG: R1014X
PubMed Link: 31573043
Variant Present in the following documents:
  • Main text
  • ijmm-44-06-2037.pdf
View BVdb publication page



Functional study of a KCNH2 mutant: Novel insights on the pathogenesis of the LQT2 syndrome.

Journal Of Cellular And Molecular Medicine
De Zio, Roberta R; Gerbino, Andrea A; Forleo, Cinzia C; Pepe, Martino M; Milano, Serena S; Favale, Stefano S; Procino, Giuseppe G; Svelto, Maria M; Carmosino, Monica M
Publication Date: 2019-09

Variant appearance in text: KCNH2: R1014X
PubMed Link: 31361068
Variant Present in the following documents:
  • Main text
  • JCMM-23-6331.pdf
View BVdb publication page



Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06

Variant appearance in text: KCNH2: 3040C>T; Arg1014*; rs794728403
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: KCNH2: R1014X
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations.

Scientific Reports
Wu, Jie J; Mizusawa, Yuka Y; Ohno, Seiko S; Ding, Wei-Guang WG; Higaki, Takashi T; Wang, Qi Q; Kohjitani, Hirohiko H; Makiyama, Takeru T; Itoh, Hideki H; Toyoda, Futoshi F; James, Andrew F AF; Hancox, Jules C JC; Matsuura, Hiroshi H; Horie, Minoru M
Publication Date: 2018-02-15

Variant appearance in text: LQT2: R1014X
PubMed Link: 29449639
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_21442.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: KCNH2: 3040C>T; Arg1014Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews
Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS
Publication Date: 2017-01

Variant appearance in text: LQT2: R1014X
PubMed Link: 27807201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015

Variant appearance in text: KCNH2: 3040C>T
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.

Acta Pharmacologica Sinica
Zhang, Kai-ping KP; Yang, Bao-feng BF; Li, Bao-xin BX
Publication Date: 2014-12

Variant appearance in text: KCNH2: R1014X
PubMed Link: 25418379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome.

Gene
Gong, Qiuming Q; Stump, Matthew R MR; Zhou, Zhengfeng Z
Publication Date: 2014-04-15

Variant appearance in text: LQT2: R1014*
PubMed Link: 24530480
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac death.

Frontiers In Physiology
Jagu, Benoît B; Charpentier, Flavien F; Toumaniantz, Gilles G
Publication Date: 2013-09-20

Variant appearance in text: LQT2: R1014X
PubMed Link: 24065925
Variant Present in the following documents:
  • Main text
  • fphys-04-00254.pdf
View BVdb publication page



Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.

Heart Rhythm
Zarraga, Ignatius Gerardo IG; Zhang, Li L; Stump, Matthew R MR; Gong, Qiuming Q; Vincent, G Michael GM; Zhou, Zhengfeng Z
Publication Date: 2011-08

Variant appearance in text: LQT2: R1014X
PubMed Link: 21419236
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome.

Journal Of Molecular And Cellular Cardiology
Gong, Qiuming Q; Stump, Matthew R MR; Zhou, Zhengfeng Z
Publication Date: 2011-01

Variant appearance in text: LQT2: R1014X
PubMed Link: 21035456
Variant Present in the following documents:
  • Main text
View BVdb publication page



Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy
Harkcom, William T WT; Abbott, Geoffrey W GW
Publication Date: 2010-08

Variant appearance in text: LQT2: R1014X
PubMed Link: 20670193
Variant Present in the following documents:
  • Main text
View BVdb publication page



HERG1 channelopathies.

Pflugers Archiv : European Journal Of Physiology
Sanguinetti, Michael C MC
Publication Date: 2010-07

Variant appearance in text: KCNH2: R1014X
PubMed Link: 20544339
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.

Journal Of Cardiovascular Pharmacology
Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT
Publication Date: 2010-08

Variant appearance in text: LQT2: R1014X
PubMed Link: 20224422
Variant Present in the following documents:
  • Main text
View BVdb publication page



A new C-terminal hERG mutation A915fs+47X associated with symptomatic LQT2 and auditory-trigger syncope.

Heart Rhythm
Christé, Georges G; Thériault, Olivier O; Chahine, Mohamed M; Millat, Gilles G; Rodriguez-Lafrasse, Claire C; Rousson, Robert R; Deschênes, Isabelle I; Ficker, Eckhard E; Chevalier, Philippe P
Publication Date: 2008-11

Variant appearance in text: HERG: R1014X
PubMed Link: 18984536
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome.

Circulation
Gong, Qiuming Q; Zhang, Li L; Vincent, G Michael GM; Horne, Benjamin D BD; Zhou, Zhengfeng Z
Publication Date: 2007-07-03

Variant appearance in text: LQT2: R1014X
PubMed Link: 17576861
Variant Present in the following documents:
  • Main text
View BVdb publication page