KCNQ1 c.877C>T ;(p.R293C)

Variant ID: 11-2594172-C-T

NM_000218.2(KCNQ1):c.877C>T;(p.R293C)

This variant was identified in 25 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: 877C>T; Arg293Cys
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27

Variant appearance in text: KCNQ1: 877C>T; rs199472737
PubMed Link: 36973604
Variant Present in the following documents:
  • 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences
, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF
Publication Date: 2023-02-24

Variant appearance in text: KCNQ1: 877C>T; Arg293Cys
PubMed Link: 36865150
Variant Present in the following documents:
  • media-2.xlsx, sheet 9
View BVdb publication page



Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.

Biomolecules
Mazzaccara, Cristina C; Lombardi, Raffaella R; Mirra, Bruno B; Barretta, Ferdinando F; Esposito, Maria Valeria MV; Uomo, Fabiana F; Caiazza, Martina M; Monda, Emanuele E; Losi, Maria Angela MA; Limongelli, Giuseppe G; D'Argenio, Valeria V; Frisso, Giulia G
Publication Date: 2022-10-03

Variant appearance in text: KCNQ1: 877C>T; Arg293Cys; rs199472737
PubMed Link: 36291626
Variant Present in the following documents:
  • biomolecules-12-01417.pdf
View BVdb publication page



Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2022-08-30

Variant appearance in text: rs199472737
PubMed Link: 36042188
Variant Present in the following documents:
  • 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: KCNQ1: 877C>T; Arg293Cys
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication.

Frontiers In Genetics
Zhuang, Jianlong J; Chen, Chunnuan C; Wang, Yuanbai Y; Zeng, Shuhong S; Chen, Yu'e Y; Jiang, Yuying Y; Xie, Yingjun Y; Wang, Gaoxiong G
Publication Date: 2022

Variant appearance in text: KCNQ1: R293C
PubMed Link: 35865016
Variant Present in the following documents:
  • Main text
  • fgene-13-924573.pdf
View BVdb publication page



Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.

Bmc Medical Genomics
Xiang, Jiale J; Jin, Yuan Y; Song, Nana N; Chen, Sen S; Shen, Jiankun J; Xie, Wen W; Sun, Xiangzhong X; Peng, Zhiyu Z; Sun, Yu Y
Publication Date: 2022-06-27

Variant appearance in text: KCNQ1: 877C>T; Arg293Ter
PubMed Link: 35761346
Variant Present in the following documents:
  • 12920_2022_1293_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy.

Anatolian Journal Of Cardiology
Saat, Hanife H; Şahin, İbrahim İ; Erdem, Haktan Bağış HB; Özgür, Senem S; Terlemez Tokgöz, Semiha S; Bahsi, Taha T
Publication Date: 2022-06

Variant appearance in text: KCNQ1: 877C>T
PubMed Link: 35703482
Variant Present in the following documents:
  • ajc-26-6-460.pdf
View BVdb publication page



Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

Journal Of Human Genetics
Chetruengchai, Wanna W; Shotelersuk, Vorasuk V
Publication Date: 2022-03

Variant appearance in text: KCNQ1: 877C>T; Arg293Cys
PubMed Link: 34621001
Variant Present in the following documents:
  • nihms-1795698.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: KCNQ1: 877C>T; Arg293Cys
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Workflow for the Implementation of Precision Genomics in Healthcare.

Frontiers In Genetics
Mehandziska, Sanja S; Stajkovska, Aleksandra A; Stavrevska, Margarita M; Jakovleva, Kristina K; Janevska, Marija M; Rosalia, Rodney R; Kungulovski, Ivan I; Mitrev, Zan Z; Kungulovski, Goran G
Publication Date: 2020

Variant appearance in text: KCNQ1: 877C>T
PubMed Link: 32695137
Variant Present in the following documents:
  • Main text
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: KCNQ1: 877C>T; Arg293Cys; rs199472737
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Sudden Unexplained Nocturnal Death Syndrome: The Hundred Years' Enigma.

Journal Of The American Heart Association
Zheng, Jingjing J; Zheng, Da D; Su, Terry T; Cheng, Jianding J
Publication Date: 2018-03-03

Variant appearance in text: KCNQ1: R293C
PubMed Link: 29502107
Variant Present in the following documents:
  • Main text
View BVdb publication page



Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One
Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA
Publication Date: 2018

Variant appearance in text: rs199472737
PubMed Link: 29420653
Variant Present in the following documents:
  • pone.0192446.s009.xlsx, sheet 2
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs199472737
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Heart Rhythm
Clemens, Daniel J DJ; Lentino, Anne R AR; Kapplinger, Jamie D JD; Ye, Dan D; Zhou, Wei W; Tester, David J DJ; Ackerman, Michael J MJ
Publication Date: 2018-04

Variant appearance in text: KCNQ1: R293C
PubMed Link: 29197658
Variant Present in the following documents:
  • Main text
View BVdb publication page



Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.

Molecular Genetics & Genomic Medicine
Bdier, Amnah Y AY; Al-Ghamdi, Saleh S; Verma, Prashant K PK; Dagriri, Khalid K; Alshehri, Bandar B; Jiman, Omamah A OA; Ahmed, Sherif E SE; Wilde, Arthur A M AAM; Bhuiyan, Zahurul A ZA; Al-Aama, Jumana Y JY
Publication Date: 2017-09

Variant appearance in text: KCNQ1: 877C>T
PubMed Link: 28944242
Variant Present in the following documents:
  • Main text
  • MGG3-5-592.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: KCNQ1: 877C>T; Arg293Cys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.

Mayo Clinic Proceedings
Zhang, Liyong L; Tester, David J DJ; Lang, Di D; Chen, Yili Y; Zheng, Jinxiang J; Gao, Rui R; Corliss, Robert F RF; Tang, Shuangbo S; Kyle, John W JW; Liu, Chao C; Ackerman, Michael J MJ; Makielski, Jonathan C JC; Cheng, Jianding J
Publication Date: 2016-11

Variant appearance in text: KCNQ1: 877C>T; Arg293Cys
PubMed Link: 27707468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: LQT1: R293C
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: KCNQ1: R293C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Nature Genetics
Taylor, Jenny C JC; Martin, Hilary C HC; Lise, Stefano S; Broxholme, John J; Cazier, Jean-Baptiste JB; Rimmer, Andy A; Kanapin, Alexander A; Lunter, Gerton G; Fiddy, Simon S; Allan, Chris C; Aricescu, A Radu AR; Attar, Moustafa M; Babbs, Christian C; Becq, Jennifer J; Beeson, David D; Bento, Celeste C; Bignell, Patricia P; Blair, Edward E; Buckle, Veronica J VJ; Bull, Katherine K; Cais, Ondrej O; Cario, Holger H; Chapel, Helen H; Copley, Richard R RR; Cornall, Richard R; Craft, Jude J; Dahan, Karin K; Davenport, Emma E EE; Dendrou, Calliope C; Devuyst, Olivier O; Fenwick, Aimée L AL; Flint, Jonathan J; Fugger, Lars L; Gilbert, Rodney D RD; Goriely, Anne A; Green, Angie A; Greger, Ingo H IH; Grocock, Russell R; Gruszczyk, Anja V AV; Hastings, Robert R; Hatton, Edouard E; Higgs, Doug D; Hill, Adrian A; Holmes, Chris C; Howard, Malcolm M; Hughes, Linda L; Humburg, Peter P; Johnson, David D; Karpe, Fredrik F; Kingsbury, Zoya Z; Kini, Usha U; Knight, Julian C JC; Krohn, Jonathan J; Lamble, Sarah S; Langman, Craig C; Lonie, Lorne L; Luck, Joshua J; McCarthy, Davis D; McGowan, Simon J SJ; McMullin, Mary Frances MF; Miller, Kerry A KA; Murray, Lisa L; Németh, Andrea H AH; Nesbit, M Andrew MA; Nutt, David D; Ormondroyd, Elizabeth E; Oturai, Annette Bang AB; Pagnamenta, Alistair A; Patel, Smita Y SY; Percy, Melanie M; Petousi, Nayia N; Piazza, Paolo P; Piret, Sian E SE; Polanco-Echeverry, Guadalupe G; Popitsch, Niko N; Powrie, Fiona F; Pugh, Chris C; Quek, Lynn L; Robbins, Peter A PA; Robson, Kathryn K; Russo, Alexandra A; Sahgal, Natasha N; van Schouwenburg, Pauline A PA; Schuh, Anna A; Silverman, Earl E; Simmons, Alison A; Sørensen, Per Soelberg PS; Sweeney, Elizabeth E; Taylor, John J; Thakker, Rajesh V RV; Tomlinson, Ian I; Trebes, Amy A; Twigg, Stephen Rf SR; Uhlig, Holm H HH; Vyas, Paresh P; Vyse, Tim T; Wall, Steven A SA; Watkins, Hugh H; Whyte, Michael P MP; Witty, Lorna L; Wright, Ben B; Yau, Chris C; Buck, David D; Humphray, Sean S; Ratcliffe, Peter J PJ; Bell, John I JI; Wilkie, Andrew Om AO; Bentley, David D; Donnelly, Peter P; McVean, Gilean G
Publication Date: 2015-07

Variant appearance in text: KCNQ1: 877C>T; R293C
PubMed Link: 25985138
Variant Present in the following documents:
  • Main text
  • emss-63135.pdf
View BVdb publication page



Building KCNQ1/KCNE1 channel models and probing their interactions by molecular-dynamics simulations.

Biophysical Journal
Xu, Yu Y; Wang, Yuhong Y; Meng, Xuan-Yu XY; Zhang, Mei M; Jiang, Min M; Cui, Meng M; Tseng, Gea-Ny GN
Publication Date: 2013-12-03

Variant appearance in text: KCNQ1: R293C
PubMed Link: 24314077
Variant Present in the following documents:
  • Main text
View BVdb publication page



KCNQ1 subdomains involved in KCNE modulation revealed by an invertebrate KCNQ1 orthologue.

The Journal Of General Physiology
Nakajo, Koichi K; Nishino, Atsuo A; Okamura, Yasushi Y; Kubo, Yoshihiro Y
Publication Date: 2011-11

Variant appearance in text: LQT1: R293C
PubMed Link: 22042987
Variant Present in the following documents:
  • Main text
  • JGP_201110677.pdf
View BVdb publication page