KCNQ1 c.1514+34369C>T

Variant ID: 11-2717680-C-T

NM_000218.2(KCNQ1):c.1514+34369C>T

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: rs463924
PubMed Link: 35903368
Variant Present in the following documents:
  • Main text
  • fncel-16-946206.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+34369C>T; rs463924
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Differential methylation of the type 2 diabetes susceptibility locus KCNQ1 is associated with insulin sensitivity and is predicted by CpG site specific genetic variation.

Diabetes Research And Clinical Practice
Shah, Ushma J UJ; Xie, Weijia W; Flyvbjerg, Allan A; Nolan, John J JJ; Højlund, Kurt K; Walker, Mark M; Relton, Caroline L CL; Elliott, Hannah R HR; ,
Publication Date: 2019-02

Variant appearance in text: rs463924
PubMed Link: 30641161
Variant Present in the following documents:
  • Main text
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: rs463924
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.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: rs463924
PubMed Link: 30157874
Variant Present in the following documents:
  • Main text
  • 12958_2018_Article_399.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: rs463924
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs463924
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
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: rs463924
PubMed Link: 21920939
Variant Present in the following documents:
  • Main text
  • ddr419.pdf
View BVdb publication page