Variant: rs120074186 

    present in Gene: KCNQ1
    present in Chromosome: 11
    Position on Chromosome: 2572979
    Alleles of this Variant: G/A;C;T

rs120074186 in KCNQ1 gene and Congenital long QT syndrome PMID 12702160 2003 KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.

rs120074186 in KCNQ1 gene and Jervell And Lange-Nielsen Syndrome 1 PMID 25705178 2015 Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

PMID 18441444 2008 A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.

PMID 18400097 2008 Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

PMID 10728423 2000 Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.

PMID 9781056 1998 Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.

PMID 10090886 1999 Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.

rs120074186 in KCNQ1 gene and Long QT Syndrome PMID 12702160 2003 KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.