NM_000218.2(KCNQ1):c.796delC (p.Leu266Cysfs) AND Long QT syndrome, LQT1 subtype

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:
RCV000046130.2

Allele description [Variation Report for NM_000218.2(KCNQ1):c.796delC (p.Leu266Cysfs)]

NM_000218.2(KCNQ1):c.796delC (p.Leu266Cysfs)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.2(KCNQ1):c.796delC (p.Leu266Cysfs)
HGVS:
  • NC_000011.10:g.2572861delC
  • NG_008935.1:g.132871delC
  • NM_000218.2:c.796delC
  • NM_181798.1:c.415delC
  • NP_000209.2:p.Leu266Cysfs
  • NP_861463.1:p.Leu139Cysfs
  • LRG_287t1:c.796delC
  • LRG_287t2:c.415delC
  • LRG_287:g.132871delC
  • LRG_287p1:p.Leu266Cysfs
  • LRG_287p2:p.Leu139Cysfs
  • NC_000011.9:g.2594091delC
  • NM_000218.2:c.796del1
  • p.L266CfsX23
Links:
dbSNP: 397508125
NCBI 1000 Genomes Browser:
rs397508125
Molecular consequence:
  • NM_000218.2:c.796delC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Long QT syndrome, LQT1 subtype
Identifiers:
MedGen: CN177655

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000074143Invitae no assertion providednot providedgermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Napolitano C, Priori SG, Schwartz PJ, Bloise R, Ronchetti E, Nastoli J, Bottelli G, Cerrone M, Leonardi S.

JAMA. 2005 Dec 21;294(23):2975-80.

PubMed [citation]
PMID:
16414944

Details of each submission

From Invitae , SCV000074143.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 16, 2017