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NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) AND Congenital long QT syndrome

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:
RCV000058201.3

Allele description

NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)

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.3133C>T (p.Leu1045Phe)
HGVS:
  • NC_000007.14:g.150947347G>A
  • NG_008916.1:g.35580C>T
  • NM_000238.4:c.3133C>TMANE SELECT
  • NM_172057.3:c.2113C>T
  • NP_000229.1:p.Leu1045Phe
  • NP_000229.1:p.Leu1045Phe
  • NP_742054.1:p.Leu705Phe
  • LRG_288t1:c.3133C>T
  • LRG_288:g.35580C>T
  • LRG_288p1:p.Leu1045Phe
  • NC_000007.13:g.150644435G>A
  • NM_000238.3:c.3133C>T
Protein change:
L1045F
Links:
dbSNP: rs199473025
NCBI 1000 Genomes Browser:
rs199473025
Molecular consequence:
  • NM_000238.4:c.3133C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.2113C>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000089721Cardiovascular 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

[DNA-based diagnostics of long QT syndrome].

Berge KE, Haugaa KH, Anfinsen OG, Früh A, Hallerud M, Jonsrud C, Øyen N, Gjesdal K, Amlie JP, Leren TP.

Tidsskr Nor Laegeforen. 2005 Oct 20;125(20):2783-6. Norwegian.

PubMed [citation]
PMID:
16244680

Sodium-channel blockers might contribute to the prevention of ventricular tachycardia in patients with long QT syndrome type 2: a description of 4 cases.

Ildarova R, Shkolnikova MA, Kharlap M, Bereznitskaya V, Kalinin L.

J Electrocardiol. 2012 May-Jun;45(3):237-43. doi: 10.1016/j.jelectrocard.2012.01.008. Epub 2012 Mar 7.

PubMed [citation]
PMID:
22402334
See all PubMed Citations (3)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089721.3

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

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:16244680;PMID:22402334). 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: Jun 18, 2022