Variant: rs199472819 

    present in Gene: KCNQ1;KCNQ1-AS1
    present in Chromosome: 11
    Position on Chromosome: 2847827
    Alleles of this Variant: T/A

rs199472819 in KCNQ1;KCNQ1-AS1 gene and Long QT Syndrome 1 PMID 9641694 1998 A recessive variant of the Romano-Ward long-QT syndrome?

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

PMID 9570196 1998 New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.

PMID 24184248 2014 A molecular mechanism for adrenergic-induced long QT syndrome.

PMID 9386136 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

PMID 9272155 1997 The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PMID 10220146 1999 High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.

PMID 9482580 1998 Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.

PMID 9312006 1997 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.

PMID 8818942 1996 Evidence of a long QT founder gene with varying phenotypic expression in South African families.

PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PMID 10367071 1999 [Congenital long QT syndrome. The value of genetics in prognostic evaluation].

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

PMID 12442276 2002 KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PMID 21241800 2011 Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.

PMID 19808498 2009 Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

PMID 18165683 2008 The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.