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

Clinical significance:drug response (Last evaluated: Aug 19, 2015)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211362.1

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:
acenocoumarol response - Dosage
Identifiers:
MedGen: CN236457

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268387PharmGKBreviewed by expert panel
drug response
(Aug 19, 2015)
Condition: acenocoumarol response - Dosage
germlinecuration

PubMed (2)
[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

An acenocoumarol dosing algorithm exploiting clinical and genetic factors in South Indian (Dravidian) population.

Krishna Kumar D, Shewade DG, Loriot MA, Beaune P, Sai Chandran BV, Balachander J, Adithan C.

Eur J Clin Pharmacol. 2015 Feb;71(2):173-81. doi: 10.1007/s00228-014-1791-x. Epub 2014 Dec 19.

PubMed [citation]
PMID:
25519826

Pharmacogenomics knowledge for personalized medicine.

Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, Altman RB, Klein TE.

Clin Pharmacol Ther. 2012 Oct;92(4):414-7. doi: 10.1038/clpt.2012.96. Review.

PubMed [citation]
PMID:
22992668
PMCID:
PMC3660037

Details of each submission

From PharmGKB, SCV000268387.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.

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

Last Updated: Mar 30, 2019

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