NM_181798.1(KCNQ1):c.1305-2A>G AND Long QT syndrome 1

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000234808.1

Allele description [Variation Report for NM_181798.1(KCNQ1):c.1305-2A>G]

NM_181798.1(KCNQ1):c.1305-2A>G

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_181798.1(KCNQ1):c.1305-2A>G
HGVS:
  • NC_000011.10:g.2776984A>G
  • NG_008935.1:g.336994A>G
  • NM_000218.2:c.1686-2A>G
  • NM_181798.1:c.1305-2A>G
  • LRG_287t1:c.1686-2A>G
  • LRG_287t2:c.1305-2A>G
  • LRG_287:g.336994A>G
  • NC_000011.9:g.2798214A>G
Links:
dbSNP: rs878854350
NCBI 1000 Genomes Browser:
rs878854350
Molecular consequence:
  • NM_000218.2:c.1686-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_181798.1:c.1305-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Long QT syndrome 1 (LQT1)
Identifiers:
MONDO: MONDO:0100316; MedGen: C4551647; Orphanet: 101016; Orphanet: 768; OMIM: 192500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000240223Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital - Life Threatening Long QT Syndromescriteria provided, single submitter
Pathogenic
(Jan 1, 2011)
germlineresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indiangermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

Vyas B, Puri RD, Namboodiri N, Nair M, Sharma D, Movva S, Saxena R, Bohora S, Aggarwal N, Vora A, Kumar J, Singh T, Verma IC.

Am J Med Genet A. 2016 Jun;170(6):1510-9. doi: 10.1002/ajmg.a.37636. Epub 2016 Apr 4. Review.

PubMed [citation]
PMID:
27041150

Details of each submission

From Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital - Life Threatening Long QT Syndromes, SCV000240223.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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