Variant: rs397508091

present in Gene: KCNQ1;KCNQ1OT1 present in Chromosome: 11 Position on Chromosome: 2662080 Alleles of this Variant: C/T

rs397508091 in KCNQ1;KCNQ1OT1 gene and Congenital long QT syndrome PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 19841300 2009 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.