KCNQ1 c.1393+23068A>G

Variant ID: 11-2633152-A-G

NM_000218.2(KCNQ1):c.1393+23068A>G

This variant was identified in 5 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: rs10766212
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: rs10766212
PubMed Link: 36350814
Variant Present in the following documents:
  • pone.0276233.s004.xlsx, sheet 1
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: 1393+23068A>G; rs10766212
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
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: rs10766212
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease.

Circulation. Cardiovascular Genetics
Westaway, Shawn K SK; Reinier, Kyndaron K; Huertas-Vazquez, Adriana A; Evanado, Audrey A; Teodorescu, Carmen C; Navarro, Jo J; Sinner, Moritz F MF; Gunson, Karen K; Jui, Jonathan J; Spooner, Peter P; Kaab, Stefan S; Chugh, Sumeet S SS
Publication Date: 2011-08-01

Variant appearance in text: rs10766212
PubMed Link: 21685173
Variant Present in the following documents:
  • Main text
View BVdb publication page