KCNQ1 c.1514+13433A>G

Variant ID: 11-2696744-A-G

NM_000218.2(KCNQ1):c.1514+13433A>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: rs7128926
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: rs7128926
PubMed Link: 36350814
Variant Present in the following documents:
  • pone.0276233.s004.xlsx, sheet 1
View BVdb publication page



Role of Long Non-Coding RNA Polymorphisms in Cancer Chemotherapeutic Response.

Journal Of Personalized Medicine
Zhang, Zheng Z; Gu, Meng M; Gu, Zhongze Z; Lou, Yan-Ru YR
Publication Date: 2021-06-04

Variant appearance in text: rs7128926
PubMed Link: 34199840
Variant Present in the following documents:
  • Main text
  • jpm-11-00513.pdf
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: rs7128926
PubMed Link: 33569458
Variant Present in the following documents:
  • Main text
  • atm-09-02-156.pdf
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: rs7128926
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: rs7128926
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: rs7128926
PubMed Link: 30157874
Variant Present in the following documents:
  • Main text
  • 12958_2018_Article_399.pdf
View BVdb publication page