Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Paralogous annotation of disease-causing variants in long QT syndrome genes. 22581653

2012

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2010

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336

2008

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. 17470695

2007

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Structural insight into KCNQ (Kv7) channel assembly and channelopathy. 17329207

2007

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR A subset of dorsal neurons modulates circadian behavior and light responses in Drosophila. 17329209

2007

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. 16818214

2006

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). 15935335

2006

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. 14678125

2004

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Compound mutations: a common cause of severe long-QT syndrome. 15051636

2004

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. 12402336

2003

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. 11140949

2001

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. 11530100

2001

dbSNP: rs199472815
rs199472815
0.700 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000