NM_024006.5(VKORC1):c.*134G>A AND warfarin response - Dosage

Clinical significance:drug response (Last evaluated: Dec 11, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211278.1

Allele description [Variation Report for NM_024006.5(VKORC1):c.*134G>A]

NM_024006.5(VKORC1):c.*134G>A

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_024006.5(VKORC1):c.*134G>A
HGVS:
  • NC_000016.10:g.31091000C>T
  • NG_011564.1:g.8956G>A
  • NM_024006.5:c.*134G>A
  • NC_000016.9:g.31102321C>T
  • NM_024006.4:c.*134G>A
Links:
PharmGKB Clinical Annotation: 1445585748; PharmGKB Clinical Annotation: 655384733; dbSNP: rs7294
NCBI 1000 Genomes Browser:
rs7294
Molecular consequence:
  • NM_024006.5:c.*134G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
warfarin response - Dosage
Identifiers:
MedGen: CN236549

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268386PharmGKBreviewed by expert panel
drug response
(Dec 11, 2017)
Condition: warfarin response - Dosage
germlinecuration

PubMed (21)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin.

D'Andrea G, D'Ambrosio RL, Di Perna P, Chetta M, Santacroce R, Brancaccio V, Grandone E, Margaglione M.

Blood. 2005 Jan 15;105(2):645-9. Epub 2004 Sep 9.

PubMed [citation]
PMID:
15358623

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
See all PubMed Citations (21)

Details of each submission

From PharmGKB, SCV000268386.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (21)

Description

PharmGKB Level of Evidence 1B: Annotation for a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more than one cohort with significant p-values, and preferably will have a strong effect size.

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

Last Updated: Mar 30, 2019

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