NM_024006.5(VKORC1):c.174-136C>T AND Warfarin response

Clinical significance:drug response (Last evaluated: Aug 22, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000054531.2

Allele description [Variation Report for NM_024006.5(VKORC1):c.174-136C>T]

NM_024006.5(VKORC1):c.174-136C>T

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.174-136C>T
HGVS:
  • NC_000016.10:g.31093557G>A
  • NG_011564.1:g.6399C>T
  • NM_024006.5:c.174-136C>T
  • NC_000016.9:g.31104878G>A
  • NM_024006.4:c.174-136C>T
Links:
PharmGKB Clinical Annotation: 1183704228; PharmGKB Clinical Annotation: 655385392; OMIM: 608547.0008; dbSNP: rs9934438
NCBI 1000 Genomes Browser:
rs9934438
Molecular consequence:
  • NM_024006.5:c.174-136C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Warfarin response
Synonyms:
COUMARIN SENSITIVITY; COUMARIN, POOR METABOLISM OF; WARFARIN RESISTANCE; See all synonyms [MedGen]
Identifiers:
MedGen: C0750384; OMIM: 122700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000083009OMIMno assertion criteria provideddrug response
(Aug 22, 2013)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

VKORC1 polymorphisms, haplotypes and haplotype groups on warfarin dose among African-Americans and European-Americans.

Limdi NA, Beasley TM, Crowley MR, Goldstein JA, Rieder MJ, Flockhart DA, Arnett DK, Acton RT, Liu N.

Pharmacogenomics. 2008 Oct;9(10):1445-58. doi: 10.2217/14622416.9.10.1445.

PubMed [citation]
PMID:
18855533
PMCID:
PMC2586955

Details of each submission

From OMIM, SCV000083009.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Among 273 African Americans and 302 European Americans undergoing warfarin therapy, Limdi et al. (2008) found that variation in the VKORC1 gene could explain 5% and 18% variability, respectively, in warfarin dosage. Two SNPs in the VKORC1 gene, rs9934438 and rs9923231 (608547.0006), were the best predictors of warfarin dose among both groups.

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

Last Updated: Mar 30, 2019

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