NM_000891.2(KCNJ2):c.557C>T (p.Pro186Leu) 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:
RCV000058319.3

Allele description

NM_000891.2(KCNJ2):c.557C>T (p.Pro186Leu)

Gene:
KCNJ2:potassium voltage-gated channel subfamily J member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q24.3
Genomic location:
Preferred name:
NM_000891.2(KCNJ2):c.557C>T (p.Pro186Leu)
HGVS:
  • NC_000017.11:g.70175596C>T
  • NG_008798.1:g.11062C>T
  • NM_000891.2:c.557C>T
  • NP_000882.1:p.Pro186Leu
  • LRG_328t1:c.557C>T
  • LRG_328:g.11062C>T
  • LRG_328p1:p.Pro186Leu
  • NC_000017.10:g.68171737C>T
  • P63252:p.Pro186Leu
Protein change:
P186L; PRO186LEU
Links:
UniProtKB: P63252#VAR_017854; OMIM: 600681.0007; dbSNP: rs104894581
NCBI 1000 Genomes Browser:
rs104894581
Molecular consequence:
  • NM_000891.2:c.557C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital long QT syndrome
Synonyms:
Familial long QT syndrome
Identifiers:
MedGen: C1141890; Orphanet: 768

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000089839Cardiovascular 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

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R.

J Clin Invest. 2002 Aug;110(3):381-8.

PubMed [citation]
PMID:
12163457
PMCID:
PMC151085

Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome.

Seebohm G, Strutz-Seebohm N, Ursu ON, Preisig-Müller R, Zuzarte M, Hill EV, Kienitz MC, Bendahhou S, Fauler M, Tapken D, Decher N, Collins A, Jurkat-Rott K, Steinmeyer K, Lehmann-Horn F, Daut J, Tavaré JM, Pott L, Bloch W, Lang F.

FASEB J. 2012 Feb;26(2):513-22. doi: 10.1096/fj.11-189126. Epub 2011 Oct 14.

PubMed [citation]
PMID:
22002906
See all PubMed Citations (3)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089839.3

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

Description

This variant has been reported in the following publications (PMID:12163457;PMID:22002906).

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

Last Updated: May 8, 2017

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