NM_000218.2(KCNQ1):c.776G>T (p.Arg259Leu) AND Congenital long QT syndrome

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000057757.3

Allele description

NM_000218.2(KCNQ1):c.776G>T (p.Arg259Leu)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.2(KCNQ1):c.776G>T (p.Arg259Leu)
Other names:
p.R259L:CGC>CTC
HGVS:
  • NC_000011.10:g.2572105G>T
  • NG_008935.1:g.132115G>T
  • NM_000218.2:c.776G>T
  • NM_181798.1:c.395G>T
  • NP_000209.2:p.Arg259Leu
  • NP_861463.1:p.Arg132Leu
  • LRG_287t1:c.776G>T
  • LRG_287t2:c.395G>T
  • LRG_287:g.132115G>T
  • LRG_287p1:p.Arg259Leu
  • LRG_287p2:p.Arg132Leu
  • NC_000011.9:g.2593335G>T
  • P51787:p.Arg259Leu
Protein change:
R132L
Links:
UniProtKB: P51787#VAR_068296; dbSNP: rs199472720
NCBI 1000 Genomes Browser:
rs199472720
Molecular consequence:
  • NM_000218.2:c.776G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital long QT syndrome
Synonyms:
Familial long QT syndrome
Identifiers:
MedGen: C1141890; Orphanet: 768

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000089276Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustno assertion providednot providedgermlineliterature only

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

Choi G, Kopplin LJ, Tester DJ, Will ML, Haglund CM, Ackerman MJ.

Circulation. 2004 Oct 12;110(15):2119-24. Epub 2004 Oct 4.

PubMed [citation]
PMID:
15466642

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

Tester DJ, Will ML, Haglund CM, Ackerman MJ.

Heart Rhythm. 2005 May;2(5):507-17.

PubMed [citation]
PMID:
15840476
See all PubMed Citations (6)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089276.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (6)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:15466642;PMID:15840476;PMID:18752142;PMID:19716085;PMID:19841300). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 6, 2018