Variant: rs775537394 

    present in Gene: KCNQ1OT1;KCNQ1
    present in Chromosome: 11
    Position on Chromosome: 2661960
    Alleles of this Variant: G/T

rs775537394 in KCNQ1OT1;KCNQ1 gene and Long QT Syndrome PMID 17905336 2007 Long QT and Brugada syndrome gene mutations in New Zealand.

PMID 19862833 2009 The genetic basis of long QT and short QT syndromes: a mutation update.

PMID 23631430 2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

PMID 9323054 1997 Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 26318259 2016 Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.