NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) 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:
RCV000057738.3

Allele description [Variation Report for NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)]

NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)

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.724G>A (p.Asp242Asn)
Other names:
p.D242N:GAC>AAC
HGVS:
  • NC_000011.10:g.2572053G>A
  • NG_008935.1:g.132063G>A
  • NM_000218.2:c.724G>A
  • NM_000218.3:c.724G>AMANE SELECT
  • NM_181798.1:c.343G>A
  • NM_181798.1:c.343G>A
  • NP_000209.2:p.Asp242Asn
  • NP_000209.2:p.Asp242Asn
  • NP_861463.1:p.Asp115Asn
  • NP_861463.1:p.Asp115Asn
  • LRG_287t1:c.724G>A
  • LRG_287t2:c.343G>A
  • LRG_287t2:c.343G>A
  • LRG_287:g.132063G>A
  • LRG_287p1:p.Asp242Asn
  • LRG_287p2:p.Asp115Asn
  • LRG_287p2:p.Asp115Asn
  • NC_000011.9:g.2593283G>A
  • NC_000011.9:g.2593283G>A
  • P51787:p.Asp242Asn
Protein change:
D115N
Links:
UniProtKB: P51787#VAR_008940; dbSNP: rs199472712
NCBI 1000 Genomes Browser:
rs199472712
Molecular consequence:
  • NM_000218.2:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000218.3:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.343G>A - 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
SCV000089257Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustno assertion providednot providedgermlineliterature only

PubMed (5)
[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

Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.

Itoh T, Tanaka T, Nagai R, Kikuchi K, Ogawa S, Okada S, Yamagata S, Yano K, Yazaki Y, Nakamura Y.

Hum Genet. 1998 Sep;103(3):290-4.

PubMed [citation]
PMID:
9799083

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 (5)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089257.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:9799083;PMID:15840476;PMID:19716085;PMID:17470695). 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: Oct 25, 2021

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