KCNQ1 c.1179G>T ;(p.K393N)

Variant ID: 11-2608850-G-T

NM_000218.2(KCNQ1):c.1179G>T;(p.K393N)

This variant was identified in 22 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: 1179G>T; Lys393Asn
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: 1179G>T; rs12720457
PubMed Link: 36973604
Variant Present in the following documents:
  • 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj
Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A
Publication Date: 2021

Variant appearance in text: KCNQ1: K393N
PubMed Link: 33552729
Variant Present in the following documents:
  • peerj-09-10711-s004.xlsx, sheet 1
  • peerj-09-10711-s004.xlsx, sheet 2
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: KCNQ1: 1179G>T; K393N
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Bmc Cardiovascular Disorders
Raju, Hariharan H; Ware, James S JS; Skinner, Jonathan R JR; Hedley, Paula L PL; Arno, Gavin G; Love, Donald R DR; van der Werf, Christian C; Tfelt-Hansen, Jacob J; Winkel, Bo Gregers BG; Cohen, Marta C MC; Li, Xinzhong X; John, Shibu S; Sharma, Sanjay S; Jeffery, Steve S; Wilde, Arthur A M AAM; Christiansen, Michael M; Sheppard, Mary N MN; Behr, Elijah R ER
Publication Date: 2019-07-23

Variant appearance in text: rs12720457
PubMed Link: 31337358
Variant Present in the following documents:
  • Main text
  • 12872_2019_1154_MOESM1_ESM.pdf
  • 12872_2019_Article_1154.pdf
View BVdb publication page



The Crossroad of Ion Channels and Calmodulin in Disease.

International Journal Of Molecular Sciences
Urrutia, Janire J; Aguado, Alejandra A; Muguruza-Montero, Arantza A; Núñez, Eider E; Malo, Covadonga C; Casis, Oscar O; Villarroel, Alvaro A
Publication Date: 2019-01-18

Variant appearance in text: LQT1: K393N
PubMed Link: 30669290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients.

Plos One
Coll, Monica M; Ferrer-Costa, Carles C; Pich, Sara S; Allegue, Catarina C; Rodrigo, Emilio E; Fernández-Fresnedo, Gema G; Barreda, Paloma P; Mates, Jesus J; Martinez de Francisco, Angel Luis AL; Ortega, Israel I; Iglesias, Anna A; Campuzano, Oscar O; Salas, Eduardo E; Arias, Manuel M; Brugada, Ramon R
Publication Date: 2018

Variant appearance in text: KCNQ1: 1179G>T; rs12720457
PubMed Link: 30020974
Variant Present in the following documents:
  • Main text
  • pone.0200756.pdf
View BVdb publication page



Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

Circulation
Giudicessi, John R JR; Roden, Dan M DM; Wilde, Arthur A M AAM; Ackerman, Michael J MJ
Publication Date: 2018-02-06

Variant appearance in text: KCNQ1: Lys393Asn
PubMed Link: 29431662
Variant Present in the following documents:
  • Main text
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: K393N
PubMed Link: 29197658
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Plos One
Forleo, Cinzia C; D'Erchia, Anna Maria AM; Sorrentino, Sandro S; Manzari, Caterina C; Chiara, Matteo M; Iacoviello, Massimo M; Guaricci, Andrea Igoren AI; De Santis, Delia D; Musci, Rita Leonarda RL; La Spada, Antonino A; Marangelli, Vito V; Pesole, Graziano G; Favale, Stefano S
Publication Date: 2017

Variant appearance in text: rs12720457
PubMed Link: 28750076
Variant Present in the following documents:
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: 1179G>T; Lys393Asn
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: KCNQ1: K393N
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
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: K393N; rs12720457
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: K393N
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Human Molecular Genetics
Pagnamenta, Alistair T AT; Howard, Malcolm F MF; Wisniewski, Eva E; Popitsch, Niko N; Knight, Samantha J L SJ; Keays, David A DA; Quaghebeur, Gerardine G; Cox, Helen H; Cox, Phillip P; Balla, Tamas T; Taylor, Jenny C JC; Kini, Usha U
Publication Date: 2015-07-01

Variant appearance in text: KCNQ1: 1179G>T; K393N
PubMed Link: 25855803
Variant Present in the following documents:
  • supp_ddv117_ddv117supp_table2.xls, sheet 1
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: KCNQ1: K393N; rs12720457
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 30
View BVdb publication page



Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.

Frontiers In Pediatrics
Bhuiyan, Zahurul A ZA; Al-Shahrani, Safar S; Al-Aama, Jumana J; Wilde, Arthur A M AA; Momenah, Tarek S TS
Publication Date: 2013-11-20

Variant appearance in text: KCNQ1: K393N
PubMed Link: 24400285
Variant Present in the following documents:
  • Main text
  • fped-01-00039.pdf
View BVdb publication page



Long QT syndrome-associated mutations in intrauterine fetal death.

Jama
Crotti, Lia L; Tester, David J DJ; White, Wendy M WM; Bartos, Daniel C DC; Insolia, Roberto R; Besana, Alessandra A; Kunic, Jennifer D JD; Will, Melissa L ML; Velasco, Ellyn J EJ; Bair, Jennifer J JJ; Ghidoni, Alice A; Cetin, Irene I; Van Dyke, Daniel L DL; Wick, Myra J MJ; Brost, Brian B; Delisle, Brian P BP; Facchinetti, Fabio F; George, Alfred L AL; Schwartz, Peter J PJ; Ackerman, Michael J MJ
Publication Date: 2013-04-10

Variant appearance in text: KCNQ1: K393N
PubMed Link: 23571586
Variant Present in the following documents:
  • Main text
View BVdb publication page



Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders
Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A
Publication Date: 2012-10-25

Variant appearance in text: KCNQ1: 1179G>T; K393N; rs12720457
PubMed Link: 23098067
Variant Present in the following documents:
  • 1471-2261-12-95-S2.pdf
View BVdb publication page



Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology
Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M
Publication Date: 2012-08-13

Variant appearance in text: KCNQ1: K393N
PubMed Link: 22947121
Variant Present in the following documents:
  • Main text
  • 2050-6511-13-6.pdf
View BVdb publication page



Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Mayo Clinic Proceedings
Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Haglund, Carla M CM; Ackerman, Michael J MJ
Publication Date: 2012-06

Variant appearance in text: KCNQ1: K393N
PubMed Link: 22677073
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation
Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Ackerman, Michael J MJ; Kaufman, Elizabeth S ES; Hofman, Nynke N; Seth, Rahul R; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S
Publication Date: 2007-05-15

Variant appearance in text: KCNQ1: K393N
PubMed Link: 17470695
Variant Present in the following documents:
  • Main text
View BVdb publication page