NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) AND Long QT syndrome, LQT1 subtype

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:
RCV000046118.2

Allele description [Variation Report for NM_000218.2(KCNQ1):c.760G>A (p.Val254Met)]

NM_000218.2(KCNQ1):c.760G>A (p.Val254Met)

Gene:
KCNQ1:potassium channel, voltage gated KQT-like subfamily Q, member 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met)
HGVS:
  • NC_000011.10:g.2572089G>A
  • NG_008935.1:g.132099G>A
  • NM_000218.2:c.760G>A
  • NM_181798.1:c.379G>A
  • NP_000209.2:p.Val254Met
  • NP_861463.1:p.Val127Met
  • LRG_287t1:c.760G>A
  • LRG_287t2:c.379G>A
  • LRG_287:g.132099G>A
  • LRG_287p1:p.Val254Met
  • LRG_287p2:p.Val127Met
  • NC_000011.9:g.2593319G>A
  • NR_040711.2:n.653G>A
Protein change:
V254M; VAL254MET
Links:
OMIM: 607542.0005; OMIM: 607542.0035; dbSNP: 120074179
NCBI 1000 Genomes Browser:
rs120074179
Molecular consequence:
  • NM_000218.2:c.760G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome, LQT1 subtype
Identifiers:
MedGen: CN177655

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000074131Invitaeno assertion providednot providedgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ.

Circulation. 2009 Nov 3;120(18):1752-60. doi: 10.1161/CIRCULATIONAHA.109.863076. Epub 2009 Oct 19.

PubMed [citation]
PMID:
19841300
PMCID:
PMC3025752

Functional effects of mutations in KvLQT1 that cause long QT syndrome.

Wang Z, Tristani-Firouzi M, Xu Q, Lin M, Keating MT, Sanguinetti MC.

J Cardiovasc Electrophysiol. 1999 Jun;10(6):817-26.

PubMed [citation]
PMID:
10376919

Details of each submission

From Invitae, SCV000074131.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2015