NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser) AND not provided

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:
RCV000057646.3

Allele description [Variation Report for NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser)]

NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser)

Genes:
KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser)
HGVS:
  • NC_000011.10:g.2847833G>A
  • NG_008935.1:g.407843G>A
  • NM_000218.2:c.1861G>A
  • NM_181798.1:c.1480G>A
  • NP_000209.2:p.Gly621Ser
  • NP_861463.1:p.Gly494Ser
  • LRG_287t1:c.1861G>A
  • LRG_287t2:c.1480G>A
  • LRG_287:g.407843G>A
  • LRG_287p1:p.Gly621Ser
  • LRG_287p2:p.Gly494Ser
  • NC_000011.9:g.2869063G>A
Protein change:
G494S
Links:
dbSNP: rs199472820
NCBI 1000 Genomes Browser:
rs199472820
Molecular consequence:
  • NM_000218.2:c.1861G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.1480G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000089165Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustno assertion providednot providedgermlineliterature only

PubMed (3)
[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

Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.

Ackerman MJ, Tester DJ, Jones GS, Will ML, Burrow CR, Curran ME.

Mayo Clin Proc. 2003 Dec;78(12):1479-87.

PubMed [citation]
PMID:
14661677

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
See all PubMed Citations (3)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089165.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

This variant has been reported in the following publications (PMID:14661677;PMID:19841300).

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

Last Updated: Oct 8, 2021

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