NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter) AND Long QT syndrome 1

Clinical significance:Likely pathogenic (Last evaluated: Feb 26, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000770826.1

Allele description [Variation Report for NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter)]

NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter)

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.1399C>T (p.Arg467Ter)
Other names:
p.R594*:CGA>TGA
HGVS:
  • NC_000011.10:g.2778023C>T
  • NG_008935.1:g.338033C>T
  • NM_000218.2:c.1780C>T
  • NM_181798.1:c.1399C>T
  • NP_000209.2:p.Arg594Ter
  • NP_861463.1:p.Arg467Ter
  • LRG_287t1:c.1780C>T
  • LRG_287t2:c.1399C>T
  • LRG_287:g.338033C>T
  • LRG_287p1:p.Arg594Ter
  • LRG_287p2:p.Arg467Ter
  • NC_000011.9:g.2799253C>T
Protein change:
R467*
Links:
dbSNP: rs794728537
NCBI 1000 Genomes Browser:
rs794728537
Molecular consequence:
  • NM_000218.2:c.1780C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181798.1:c.1399C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000902325Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospitalno assertion criteria providedLikely pathogenic
(Feb 26, 2019)
inheritedcase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providedyescase-control

Details of each submission

From Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital, SCV000902325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not provided1not provided

Last Updated: Oct 6, 2021

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