KCNQ1 c.1514+11295C>A

Variant ID: 11-2694606-C-A

NM_000218.2(KCNQ1):c.1514+11295C>A

This variant was identified in 14 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: rs231359
PubMed Link: 36564540
Variant Present in the following documents:
  • 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One
Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y
Publication Date: 2022

Variant appearance in text: rs231359
PubMed Link: 36350814
Variant Present in the following documents:
  • pone.0276233.s004.xlsx, sheet 1
View BVdb publication page



A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics
Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D
Publication Date: 2022-07-21

Variant appearance in text: rs231359
PubMed Link: 35864542
Variant Present in the following documents:
  • 12920_2022_1315_MOESM2_ESM.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: rs231359
PubMed Link: 33569458
Variant Present in the following documents:
  • Main text
  • atm-09-02-156.pdf
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: KCNQ1: 1514+11295C>A; rs231359
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs231359
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A variant in KCNQ1 gene predicts metabolic syndrome among northern urban Han Chinese women.

Bmc Medical Genetics
Liu, Yafei Y; Wang, Chunxia C; Chen, Yafei Y; Yuan, Zhongshang Z; Yu, Tao T; Zhang, Wenchao W; Tang, Fang F; Gu, Jianhua J; Xu, Qinqin Q; Chi, Xiaotong X; Ding, Lijie L; Xue, Fuzhong F; Zhang, Chengqi C
Publication Date: 2018-08-29

Variant appearance in text: rs231359
PubMed Link: 30157802
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_652.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs231359
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors.

Nature Communications
Martin-Trujillo, Alex A; Vidal, Enrique E; Monteagudo-Sánchez, Ana A; Sanchez-Delgado, Marta M; Moran, Sebastian S; Hernandez Mora, Jose Ramon JR; Heyn, Holger H; Guitart, Miriam M; Esteller, Manel M; Monk, David D
Publication Date: 2017-09-07

Variant appearance in text: rs231359
PubMed Link: 28883545
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_639.pdf
  • 41467_2017_639_MOESM1_ESM.pdf
View BVdb publication page



THE DIABETES EPIDEMIC IN CHINA: AN INTEGRATED REVIEW OF NATIONAL SURVEYS.

Endocrine Practice : Official Journal Of The American College Of Endocrinology And The American Association Of Clinical Endocrinologists
Shen, Xiuhua X; Vaidya, Anand A; Wu, Shoulin S; Gao, Xiang X
Publication Date: 2016-09

Variant appearance in text: rs231359
PubMed Link: 27295015
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulation of functional KCNQ1OT1 lncRNA by β-catenin.

Scientific Reports
Sunamura, Naohiro N; Ohira, Takahito T; Kataoka, Miki M; Inaoka, Daigo D; Tanabe, Hideyuki H; Nakayama, Yuji Y; Oshimura, Mitsuo M; Kugoh, Hiroyuki H
Publication Date: 2016-02-12

Variant appearance in text: rs231359
PubMed Link: 26868975
Variant Present in the following documents:
  • Main text
  • srep20690.pdf
View BVdb publication page



Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.

Plos Genetics
Ng, Maggie C Y MC; Shriner, Daniel D; Chen, Brian H BH; Li, Jiang J; Chen, Wei-Min WM; Guo, Xiuqing X; Liu, Jiankang J; Bielinski, Suzette J SJ; Yanek, Lisa R LR; Nalls, Michael A MA; Comeau, Mary E ME; Rasmussen-Torvik, Laura J LJ; Jensen, Richard A RA; Evans, Daniel S DS; Sun, Yan V YV; An, Ping P; Patel, Sanjay R SR; Lu, Yingchang Y; Long, Jirong J; Armstrong, Loren L LL; Wagenknecht, Lynne L; Yang, Lingyao L; Snively, Beverly M BM; Palmer, Nicholette D ND; Mudgal, Poorva P; Langefeld, Carl D CD; Keene, Keith L KL; Freedman, Barry I BI; Mychaleckyj, Josyf C JC; Nayak, Uma U; Raffel, Leslie J LJ; Goodarzi, Mark O MO; Chen, Y-D Ida YD; Taylor, Herman A HA; Correa, Adolfo A; Sims, Mario M; Couper, David D; Pankow, James S JS; Boerwinkle, Eric E; Adeyemo, Adebowale A; Doumatey, Ayo A; Chen, Guanjie G; Mathias, Rasika A RA; Vaidya, Dhananjay D; Singleton, Andrew B AB; Zonderman, Alan B AB; Igo, Robert P RP; Sedor, John R JR; , ; Kabagambe, Edmond K EK; Siscovick, David S DS; McKnight, Barbara B; Rice, Kenneth K; Liu, Yongmei Y; Hsueh, Wen-Chi WC; Zhao, Wei W; Bielak, Lawrence F LF; Kraja, Aldi A; Province, Michael A MA; Bottinger, Erwin P EP; Gottesman, Omri O; Cai, Qiuyin Q; Zheng, Wei W; Blot, William J WJ; Lowe, William L WL; Pacheco, Jennifer A JA; Crawford, Dana C DC; , ; , ; Grundberg, Elin E; , ; Rich, Stephen S SS; Hayes, M Geoffrey MG; Shu, Xiao-Ou XO; Loos, Ruth J F RJ; Borecki, Ingrid B IB; Peyser, Patricia A PA; Cummings, Steven R SR; Psaty, Bruce M BM; Fornage, Myriam M; Iyengar, Sudha K SK; Evans, Michele K MK; Becker, Diane M DM; Kao, W H Linda WH; Wilson, James G JG; Rotter, Jerome I JI; Sale, Michèle M MM; Liu, Simin S; Rotimi, Charles N CN; Bowden, Donald W DW; ,
Publication Date: 2014-08

Variant appearance in text: rs231359
PubMed Link: 25102180
Variant Present in the following documents:
  • Main text
  • pgen.1004517.pdf
View BVdb publication page



Telomeric NAP1L4 and OSBPL5 of the KCNQ1 cluster, and the DECORIN gene are not imprinted in human trophoblast stem cells.

Plos One
Frost, Jennifer M JM; Udayashankar, Ramya R; Moore, Harry D HD; Moore, Gudrun E GE
Publication Date: 2010-07-14

Variant appearance in text: rs231359
PubMed Link: 20644730
Variant Present in the following documents:
  • Main text
  • pone.0011595.pdf
View BVdb publication page



A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.

Plos Genetics
Tsai, Fuu-Jen FJ; Yang, Chi-Fan CF; Chen, Ching-Chu CC; Chuang, Lee-Ming LM; Lu, Chieh-Hsiang CH; Chang, Chwen-Tzuei CT; Wang, Tzu-Yuan TY; Chen, Rong-Hsing RH; Shiu, Chiung-Fang CF; Liu, Yi-Min YM; Chang, Chih-Chun CC; Chen, Pei P; Chen, Chien-Hsiun CH; Fann, Cathy S J CS; Chen, Yuan-Tsong YT; Wu, Jer-Yuarn JY
Publication Date: 2010-02-19

Variant appearance in text: rs231359
PubMed Link: 20174558
Variant Present in the following documents:
  • Main text
  • pgen.1000847.pdf
View BVdb publication page