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NM_000238.4(KCNH2):c.762C>G (p.His254Gln) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000058254.5

Allele description [Variation Report for NM_000238.4(KCNH2):c.762C>G (p.His254Gln)]

NM_000238.4(KCNH2):c.762C>G (p.His254Gln)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.4(KCNH2):c.762C>G (p.His254Gln)
HGVS:
  • NC_000007.14:g.150958213G>C
  • NG_008916.1:g.24714C>G
  • NM_000238.4:c.762C>GMANE SELECT
  • NM_001406753.1:c.474C>G
  • NM_001406755.1:c.585C>G
  • NM_001406756.1:c.474C>G
  • NM_001406757.1:c.462C>G
  • NM_172056.3:c.762C>G
  • NP_000229.1:p.His254Gln
  • NP_000229.1:p.His254Gln
  • NP_001393682.1:p.His158Gln
  • NP_001393684.1:p.His195Gln
  • NP_001393685.1:p.His158Gln
  • NP_001393686.1:p.His154Gln
  • NP_742053.1:p.His254Gln
  • NP_742053.1:p.His254Gln
  • LRG_288t1:c.762C>G
  • LRG_288t2:c.762C>G
  • LRG_288:g.24714C>G
  • LRG_288p1:p.His254Gln
  • LRG_288p2:p.His254Gln
  • NC_000007.13:g.150655301G>C
  • NM_000238.3:c.762C>G
  • NM_172056.2:c.762C>G
  • NR_176254.1:n.1170C>G
Protein change:
H154Q
Links:
dbSNP: rs199473502
NCBI 1000 Genomes Browser:
rs199473502
Molecular consequence:
  • NM_000238.4:c.762C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.474C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.585C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.474C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.462C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.762C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000089774Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

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, SCV000089774.3

#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: Nov 5, 2022