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NM_024006.5(VKORC1):c.283+837T>C

Variation ID: Help
225975
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
drug response
Last evaluated:
Dec 7, 2017
Number of submission(s):
1
Condition(s):
warfarin response - Dosage[MedGen]
See supporting ClinVar records

Allele(s) Help

NM_024006.5(VKORC1):c.283+837T>C

Allele ID:
227784
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
  • Chr16: 31092475 (on Assembly GRCh38)
  • Chr16: 31103796 (on Assembly GRCh37)
HGVS:
  • NG_011564.1:g.7481T>C
  • NM_024006.5:c.283+837T>C
  • NC_000016.10:g.31092475A>G (GRCh38)
  • NC_000016.9:g.31103796A>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs2359612
Molecular consequence:
NM_024006.5:c.283+837T>C: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.39038 (A)
  • 1000 Genomes Project 0.60963
  • The Genome Aggregation Database (gnomAD) 0.64220
  • Trans-Omics for Precision Medicine (TOPMed) 0.62799

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

PGx

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
drug response
(Dec 7, 2017)
reviewed by expert panel
curationCondition: warfarin response - Dosage
  • Drug reported used for: Heart Diseases[MedGen]
  • Drug reported used for: Atrial fibrillation[EFO | MedGen | Human Phenotype Ontology]
  • Drug reported used for: Arteriosclerosis[MeSH | MedGen | Human Phenotype Ontology]
  • Drug reported used for: Heart Diseases;Hemorrhage;Intracranial Hemorrhages;Myocardial Infarction;Peripheral Vascular Diseases;Thromboembolism;venous thromboembolism
  • Drug reported used for: Atrial Fibrillation;Pulmonary Embolism;Stroke;Venous Thrombosis
  • Drug reported used for: Arteriosclerosis;Heart Diseases;Hemorrhage;Intracranial Hemorrhages;Myocardial Infarction;Peripheral Vascular Diseases;Pulmonary Embolism;Stroke;Thromboembolism;venous thromboembolism;Venous Thrombosis
  • Drug reported used for: Hemorrhage[MedGen]
germlinePharmGKBSCV000268267.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
PharmGKBnot providednot providedgermlinenot providednot providedPharmGKB Level of Evidence 2A:…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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