NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) 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:
RCV000057595.3

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys)]

NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys)

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_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys)
HGVS:
  • NC_000011.10:g.2768884C>T
  • NG_008935.1:g.328894C>T
  • NM_000218.2:c.1555C>T
  • NM_000218.3:c.1555C>TMANE SELECT
  • NM_181798.1:c.1174C>T
  • NP_000209.2:p.Arg519Cys
  • NP_000209.2:p.Arg519Cys
  • NP_861463.1:p.Arg392Cys
  • LRG_287t1:c.1555C>T
  • LRG_287t2:c.1174C>T
  • LRG_287:g.328894C>T
  • LRG_287p1:p.Arg519Cys
  • LRG_287p2:p.Arg392Cys
  • NC_000011.9:g.2790114C>T
Protein change:
R392C
Links:
dbSNP: rs199472787
NCBI 1000 Genomes Browser:
rs199472787
Molecular consequence:
  • NM_000218.2:c.1555C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000218.3:c.1555C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital long QT syndrome (RWS)
Synonyms:
Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:
MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000089114Cardiovascular 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

The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.

Van Langen IM, Birnie E, Alders M, Jongbloed RJ, Le Marec H, Wilde AA.

J Med Genet. 2003 Feb;40(2):141-5. No abstract available.

PubMed [citation]
PMID:
12566525
PMCID:
PMC1735373

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, SCV000089114.3

#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:12566525). 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 26, 2021

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