NM_181798.1(KCNQ1):c.*875A>G AND Congenital long QT syndrome

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000291070.2

Allele description [Variation Report for NM_181798.1(KCNQ1):c.*875A>G]

NM_181798.1(KCNQ1):c.*875A>G

Genes:
KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_181798.1(KCNQ1):c.*875A>G
HGVS:
  • NC_000011.10:g.2848878A>G
  • NG_008935.1:g.408888A>G
  • NM_000218.2:c.*875A>G
  • NM_181798.1:c.*875A>G
  • LRG_287t1:c.*875A>G
  • LRG_287t2:c.*875A>G
  • LRG_287:g.408888A>G
  • NC_000011.9:g.2870108A>G
Links:
dbSNP: rs8234
NCBI 1000 Genomes Browser:
rs8234
Molecular consequence:
  • NM_000218.2:c.*875A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181798.1:c.*875A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Congenital long QT syndrome (RWS)
Synonyms:
Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:
MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000370565Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000370565.2

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

Last Updated: Oct 6, 2021

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