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NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=) AND Long QT syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 11, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000678813.3

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=)]

NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=)

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_000218.3(KCNQ1):c.1032G>T (p.Ala344=)
HGVS:
  • NC_000011.10:g.2583545G>T
  • NG_008935.1:g.143555G>T
  • NM_000218.3:c.1032G>TMANE SELECT
  • NM_001406836.1:c.1032G>T
  • NM_001406837.1:c.762G>T
  • NM_001406838.1:c.588G>T
  • NM_181798.2:c.651G>T
  • NP_000209.2:p.Ala344=
  • NP_000209.2:p.Ala344=
  • NP_001393765.1:p.Ala344=
  • NP_001393766.1:p.Ala254=
  • NP_001393767.1:p.Ala196=
  • NP_861463.1:p.Ala217=
  • NP_861463.1:p.Ala217=
  • LRG_287t1:c.1032G>T
  • LRG_287t2:c.651G>T
  • LRG_287:g.143555G>T
  • LRG_287p1:p.Ala344=
  • LRG_287p2:p.Ala217=
  • NC_000011.9:g.2604775G>T
  • NM_000218.2:c.1032G>T
  • NM_181798.1:c.651G>T
  • NR_040711.2:n.925G>T
Links:
dbSNP: rs1800171
NCBI 1000 Genomes Browser:
rs1800171
Molecular consequence:
  • NM_000218.3:c.1032G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406836.1:c.1032G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406837.1:c.762G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406838.1:c.588G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181798.2:c.651G>T - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]

Condition(s)

Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000804999Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Likely pathogenic
(Nov 11, 2015)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000804999.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2023