NM_000218.3(KCNQ1):c.1393+28111T>G AND Jervell and Lange-Nielsen 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:
RCV000364803.2

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1393+28111T>G]

NM_000218.3(KCNQ1):c.1393+28111T>G

Genes:
KCNQ1OT1:KCNQ1 opposite strand/antisense transcript 1 [Gene - OMIM - HGNC]
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.1393+28111T>G
HGVS:
  • NC_000011.10:g.2616965T>G
  • NG_008935.1:g.176975T>G
  • NG_016178.2:g.88034A>C
  • NM_000218.2:c.1393+28111T>G
  • NM_000218.3:c.1393+28111T>GMANE SELECT
  • NM_181798.1:c.1012+28111T>G
  • LRG_1052t1:n.83034A>C
  • LRG_287t1:c.1393+28111T>G
  • LRG_287t2:c.1012+28111T>G
  • LRG_1052:g.88034A>C
  • LRG_287:g.176975T>G
  • NC_000011.9:g.2638195T>G
  • NR_002728.3:n.83034A>C
Links:
dbSNP: rs114030398
NCBI 1000 Genomes Browser:
rs114030398
Molecular consequence:
  • NM_000218.2:c.1393+28111T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000218.3:c.1393+28111T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181798.1:c.1012+28111T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_002728.3:n.83034A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Jervell and Lange-Nielsen syndrome (JLNS)
Synonyms:
Jervell-Lange Nielsen syndrome
Identifiers:
MONDO: MONDO:0002441; MedGen: C0022387; OMIM: PS220400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000370320Illumina 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, SCV000370320.2

#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 25, 2021

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