present in Gene: KCNQ1
present in Chromosome: 11
Position on Chromosome: 2768881
Alleles of this Variant: C/G;T
rs17215500 in
KCNQ1 gene and
Jervell-Lange Nielsen Syndrome
PMID 24552659 2014 The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome- JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide.
PMID 10704188 1999 Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
PMID 22539601 2012 Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.
PMID 23098067 2012 Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
PMID 14510661 2003 Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).
PMID 10482963 1999 Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.
PMID 22309168 2012 Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel.
PMID 24912595 2014 Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.
PMID 26546361 2015 Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.
rs17215500 in
KCNQ1 gene and
Long QT Syndrome
PMID 25705178 2015 Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
PMID 24552659 2014 The study included 19 Swedish p.R518X index families, ascertained by molecular genetics methods (101 mutation-carriers, whereof 15 JLNS cases and 86 LQTS cases).
PMID 22539601 2012 Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.
PMID 23392653 2013 Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.
PMID 10704188 1999 Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
PMID 10482963 1999 Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.
PMID 23098067 2012 Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
rs17215500 in
KCNQ1 gene and
Long QT Syndrome 1
PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
PMID 23994779 2013 Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
rs17215500 in
KCNQ1 gene and
Romano-Ward Syndrome
PMID 10482963 1999 Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.
PMID 10704188 1999 Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
PMID 23098067 2012 Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
PMID 24552659 2014 Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.
PMID 22539601 2012 Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.
PMID 24912595 2014 Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.
PMID 14510661 2003 Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).
PMID 22309168 2012 Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel.
PMID 26546361 2015 Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.