NM_000218.2(KCNQ1):c.776G>A (p.Arg259His) 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:
RCV000057756.3

Allele description

NM_000218.2(KCNQ1):c.776G>A (p.Arg259His)

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>A (p.Arg259His)
Other names:
p.R259H:CGC>CAC
HGVS:
  • NC_000011.10:g.2572105G>A
  • NG_008935.1:g.132115G>A
  • NM_000218.2:c.776G>A
  • NM_181798.1:c.395G>A
  • NP_000209.2:p.Arg259His
  • NP_861463.1:p.Arg132His
  • LRG_287t1:c.776G>A
  • LRG_287t2:c.395G>A
  • LRG_287:g.132115G>A
  • LRG_287p1:p.Arg259His
  • LRG_287p2:p.Arg132His
  • NC_000011.9:g.2593335G>A
  • P51787:p.Arg259His
Protein change:
R132H
Links:
UniProtKB: P51787#VAR_074964; dbSNP: rs199472720
NCBI 1000 Genomes Browser:
rs199472720
Allele Frequency:
0.00001(A)
Molecular consequence:
  • NM_000218.2:c.776G>A - 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
SCV000089275Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustno assertion providednot providedgermlineliterature only

PubMed (2)
[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 of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzàlez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.

Clin Genet. 2006 Sep;70(3):214-27.

PubMed [citation]
PMID:
16922724

Paralogous annotation of disease-causing variants in long QT syndrome genes.

Ware JS, Walsh R, Cunningham F, Birney E, Cook SA.

Hum Mutat. 2012 Aug;33(8):1188-1191. doi: 10.1002/humu.22114. Epub 2012 Jun 7.

PubMed [citation]
PMID:
22581653
PMCID:
PMC4640174

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089275.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:16922724). 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: Aug 19, 2017