KCNQ1 c.1514+46A>G

Variant ID: 11-2683357-A-G

NM_000218.2(KCNQ1):c.1514+46A>G

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports
Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q
Publication Date: 2022-12-23

Variant appearance in text: rs760419
PubMed Link: 36564540
Variant Present in the following documents:
  • 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs760419
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The Role of Genetic Variants in the Susceptibility of Noise-Induced Hearing Loss.

Frontiers In Cellular Neuroscience
Chen, Xue-Min XM; Xue, Xin-Miao XM; Yu, Ning N; Guo, Wei-Wei WW; Yuan, Shuo-Long SL; Jiang, Qing-Qing QQ; Yang, Shi-Ming SM
Publication Date: 2022

Variant appearance in text: rs760419
PubMed Link: 35903368
Variant Present in the following documents:
  • Main text
  • fncel-16-946206.pdf
View BVdb publication page



A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.

Annals Of Human Genetics
Zhang, Dejun D; Wu, Jie J; Yuan, Yongyi Y; Li, Xiaohong X; Gao, Xue X; Han, Mingyu M; Gao, Song S; Huang, Shasha S; Dai, Pu P
Publication Date: 2022-07

Variant appearance in text: rs760419
PubMed Link: 35292975
Variant Present in the following documents:
  • AHG-86-207-s002.xlsx, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: KCNQ1: 1514+46A>G; rs760419
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs760419
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Association study between KCNQ1 and KCNQ1OT1 genetic polymorphisms and gastric cancer susceptibility and survival in a Chinese Han population: a case-control study.

Annals Of Translational Medicine
Yang, Zhenyu Z; Yuan, Lijuan L; Yang, Lin L; Peng, Shujia S; Yang, Ping P; He, Xianli X; Bao, Guoqiang G
Publication Date: 2021-01

Variant appearance in text: rs760419
PubMed Link: 33569458
Variant Present in the following documents:
  • Main text
  • atm-09-02-156.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs760419
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs760419
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM10_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: KCNQ1: 1514+46A>G; rs760419
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Associations between the maternal circulating lipid profile in pregnancy and fetal imprinted gene alleles: a cohort study.

Reproductive Biology And Endocrinology : Rb&E
Petry, Clive J CJ; Koulman, Albert A; Lu, Liangjian L; Jenkins, Benjamin B; Furse, Samuel S; Prentice, Philippa P; Matthews, Lee L; Hughes, Ieuan A IA; Acerini, Carlo L CL; Ong, Ken K KK; Dunger, David B DB
Publication Date: 2018-08-29

Variant appearance in text: rs760419
PubMed Link: 30157874
Variant Present in the following documents:
  • Main text
  • 12958_2018_Article_399.pdf
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: rs760419
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 3
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 7
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Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.

Endocrine Connections
Iivonen, Anna-Pauliina AP; Känsäkoski, Johanna J; Karppinen, Atte A; Kivipelto, Leena L; Schalin-Jäntti, Camilla C; Karhu, Auli A; Raivio, Taneli T
Publication Date: 2018-05

Variant appearance in text: KCNQ1: 1514+46A>G; rs760419
PubMed Link: 29703730
Variant Present in the following documents:
  • ec-7-645-t002.pdf
View BVdb publication page



Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.

Heart Asia
Chen, Lin Y LY; Goh, June M JM; Wong, Raymond C RC; Hsu, Li-Fern LF; Foo, David D; Benditt, David G DG; Ling, Lieng H LH; Heng, Chew K CK
Publication Date: 2010

Variant appearance in text: rs760419
PubMed Link: 27325960
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single nucleotide polymorphisms in proximity to K-channel genes are associated with decreased longitudinal QTc variance.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Mints, Yuliya Y; Zipunnikov, Vadim V; Khurram, Irfan I; Calkins, Hugh H; Nazarian, Saman S
Publication Date: 2014-01

Variant appearance in text: rs760419
PubMed Link: 24460807
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.

Thescientificworldjournal
Chu, Hui-min HM; Feng, Ming-jun MJ; Li, Yi-gang YG; Zhang, Yi-xin YX; Ma, Ji-fang JF; He, Bin B; Yu, Yi-bo YB; Liu, Jing J; Chen, Xiao-min XM
Publication Date: 2013

Variant appearance in text: rs760419
PubMed Link: 23710137
Variant Present in the following documents:
  • Main text
  • TSWJ2013-373454.pdf
View BVdb publication page



The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.

Human Molecular Genetics
Chiesa, Nicoletta N; De Crescenzo, Agostina A; Mishra, Kankadeb K; Perone, Lucia L; Carella, Massimo M; Palumbo, Orazio O; Mussa, Alessandro A; Sparago, Angela A; Cerrato, Flavia F; Russo, Silvia S; Lapi, Elisabetta E; Cubellis, Maria Vittoria MV; Kanduri, Chandrasekhar C; Cirillo Silengo, Margherita M; Riccio, Andrea A; Ferrero, Giovanni Battista GB
Publication Date: 2012-01-01

Variant appearance in text: rs760419
PubMed Link: 21920939
Variant Present in the following documents:
  • Main text
  • ddr419.pdf
View BVdb publication page



Relationship between genetic variants in myocardial sodium and potassium channel genes and QT interval duration in diabetics: the Diabetes Heart Study.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Lehtinen, Allison B AB; Daniel, Kurt R KR; Shah, Sidharth A SA; Nelson, Matthew R MR; Ziegler, Julie T JT; Freedman, Barry I BI; Carr, J Jeffrey JJ; Herrington, David M DM; Langefeld, Carl D CD; Bowden, Donald W DW
Publication Date: 2009-01

Variant appearance in text: rs760419
PubMed Link: 19149796
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human imprinted chromosomal regions are historical hot-spots of recombination.

Plos Genetics
Sandovici, Ionel I; Kassovska-Bratinova, Sacha S; Vaughan, Joe E JE; Stewart, Rae R; Leppert, Mark M; Sapienza, Carmen C
Publication Date: 2006-07

Variant appearance in text: rs760419
PubMed Link: 16839189
Variant Present in the following documents:
  • Main text
  • pgen.0020101.pdf
View BVdb publication page