Variant: rs1060500621 

    present in Gene: KCNQ1
    present in Chromosome: 11
    Position on Chromosome: 2572846
    Alleles of this Variant: GA/TT

rs1060500621 in KCNQ1 gene and Long QT Syndrome PMID 27041096 2016 Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?

PMID 26675252 2015 QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.

PMID 26669661 2016 Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

PMID 10704188 1999 Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

PMID 25348405 2015 UniProt: a hub for protein information.

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

PMID 11530100 2001 A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

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

PMID 18752142 2008 Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.