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NM_024006.6(VKORC1):c.283+837T>C AND warfarin response - Dosage

Germline classification:
drug response (1 submission)
Last evaluated:
Mar 24, 2021
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000211406.3

Allele description [Variation Report for NM_024006.6(VKORC1):c.283+837T>C]

NM_024006.6(VKORC1):c.283+837T>C

Gene:
VKORC1:vitamin K epoxide reductase complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_024006.6(VKORC1):c.283+837T>C
HGVS:
  • NC_000016.10:g.31092475A>G
  • NG_011564.1:g.7481T>C
  • NM_001311311.2:c.367+308T>C
  • NM_024006.6:c.283+837T>CMANE SELECT
  • NM_206824.3:c.174-1133T>C
  • LRG_582t1:c.283+837T>C
  • LRG_582:g.7481T>C
  • NC_000016.9:g.31103796A>G
  • NM_024006.4:c.283+837T>C
Links:
PharmGKB: 655385024; PharmGKB: 655385024PA451906; PharmGKB Clinical Annotation: 655385024; dbSNP: rs2359612
NCBI 1000 Genomes Browser:
rs2359612
Molecular consequence:
  • NM_001311311.2:c.367+308T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024006.6:c.283+837T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_206824.3:c.174-1133T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
warfarin response - Dosage
Identifiers:
MedGen: CN322729

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000268267PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)		drug response
(Mar 24, 2021)
Condition: warfarin response - Dosage		germlinecuration

PubMed (13)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Common VKORC1 and GGCX polymorphisms associated with warfarin dose.

Wadelius M, Chen LY, Downes K, Ghori J, Hunt S, Eriksson N, Wallerman O, Melhus H, Wadelius C, Bentley D, Deloukas P.

Pharmacogenomics J. 2005;5(4):262-70.

PubMed [citation]
PMID:
15883587

VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation.

Geisen C, Watzka M, Sittinger K, Steffens M, Daugela L, Seifried E, Müller CR, Wienker TF, Oldenburg J.

Thromb Haemost. 2005 Oct;94(4):773-9.

PubMed [citation]
PMID:
16270629
See all PubMed Citations (13)

Details of each submission

From PharmGKB, SCV000268267.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (13)

Description

PharmGKB Level of Evidence 1B: Level 1B clinical annotations describe variant-drug combinations with a high level of evidence supporting the association but no variant-specific prescribing guidance in an annotated clinical guideline or FDA drug label. Level 1B clinical annotations must be supported by at least two independent publications.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023