KCNQ1 c.513C>G ;(p.Y171*)

Variant ID: 11-2591893-C-G

NM_000218.2(KCNQ1):c.513C>G;(p.Y171*)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine
Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W
Publication Date: 2022

Variant appearance in text: LQT1: Y171X
PubMed Link: 36277779
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine
Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J
Publication Date: 2022

Variant appearance in text: LQT1: Y171X
PubMed Link: 35647048
Variant Present in the following documents:
  • Main text
  • fcvm-09-889519.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: KCNQ1: 513C>G; Tyr171Ter; rs139042529
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family.

Neural Plasticity
Qiu, Yue Y; Chen, Sen S; Wu, Xia X; Zhang, Wen-Juan WJ; Xie, Wen W; Jin, Yuan Y; Xie, Le L; Xu, Kai K; Bai, Xue X; Zhang, Hui-Min HM; Liu, Xiao-Zhou XZ; Wang, Xiao-Hui XH; Sun, Yu Y; Kong, Wei-Jia WJ
Publication Date: 2020

Variant appearance in text: KCNQ1: Y171X
PubMed Link: 32508908
Variant Present in the following documents:
  • Main text
  • NP2020-3569359.pdf
View BVdb publication page



The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.

Frontiers In Endocrinology
Huttunen, Heta H; Hero, Matti M; Lääperi, Mitja M; Känsäkoski, Johanna J; Swan, Heikki H; Hirsch, Joel A JA; Miettinen, Päivi J PJ; Raivio, Taneli T
Publication Date: 2018

Variant appearance in text: KCNQ1: Tyr171Ter
PubMed Link: 29740400
Variant Present in the following documents:
  • Main text
  • fendo-09-00194.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: KCNQ1: 513C>G; rs139042529
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.

Heart Rhythm
Ruwald, Martin H MH; Xu Parks, Xiaorong X; Moss, Arthur J AJ; Zareba, Wojciech W; Baman, Jayson J; McNitt, Scott S; Kanters, Jorgen K JK; Shimizu, Wataru W; Wilde, Arthur A AA; Jons, Christian C; Lopes, Coeli M CM
Publication Date: 2016-01

Variant appearance in text: KCNQ1: Y171X
PubMed Link: 26318259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

Circulation. Cardiovascular Genetics
Giudicessi, John R JR; Ackerman, Michael J MJ
Publication Date: 2013-04

Variant appearance in text: JLNS1: Y171X
PubMed Link: 23392653
Variant Present in the following documents:
  • Main text
View BVdb publication page



KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?

Bmc Medical Genetics
Lahtinen, Annukka M AM; Marjamaa, Annukka A; Swan, Heikki H; Kontula, Kimmo K
Publication Date: 2011-01-18

Variant appearance in text: KCNQ1: Y171X
PubMed Link: 21244686
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-11.pdf
View BVdb publication page



Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation.

Journal Of Cardiovascular Electrophysiology
Horr, Samuel S; Goldenberg, Ilan I; Moss, Arthur J AJ; O-Uchi, Jin J; Barsheshet, Alon A; Connelly, Heather H; Gray, Daniel A DA; Zareba, Wojciech W; Lopes, Coeli M B CM
Publication Date: 2011-02

Variant appearance in text: KCNQ1: Y171X
PubMed Link: 20662986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation
Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Ackerman, Michael J MJ; Kaufman, Elizabeth S ES; Hofman, Nynke N; Seth, Rahul R; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S
Publication Date: 2007-05-15

Variant appearance in text: KCNQ1: Y171X
PubMed Link: 17470695
Variant Present in the following documents:
  • Main text
View BVdb publication page