Variant: rs397508104 

    present in Gene: KCNQ1-AS1;KCNQ1
    present in Chromosome: 11
    Position on Chromosome: 2847859
    Alleles of this Variant: C/-;CC

rs397508104 in KCNQ1-AS1;KCNQ1 gene and Long QT Syndrome PMID 10024302 1999 Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

PMID 19825999 2009 Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.

PMID 25187895 2014 Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.

PMID 23098067 2012 Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

PMID 16981927 2006 The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome.

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