NM_024006.6(VKORC1):c.174-136C>T AND Warfarin response

This record was updated by the submitter. Please see the current version.

Germline classification:: drug response (1 submission)
Last evaluated:: Aug 22, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000054531.2

Allele description

NM_024006.6(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_024006.6(VKORC1):c.174-136C>T

HGVS:

NC_000016.10:g.31093557G>A
NG_011564.1:g.6399C>T
NM_001311311.1:c.174-136C>T
NM_024006.6:c.174-136C>T
NM_206824.2:c.173+1000C>T
NC_000016.9:g.31104878G>A
NM_024006.4:c.174-136C>T

Links:

PharmGKB: 1183704228; PharmGKB: 1183704228PA450921; PharmGKB: 1183704228PA452632; PharmGKB: 655385392; PharmGKB: 655385392PA451906; PharmGKB Clinical Annotation: 1183704228; PharmGKB Clinical Annotation: 655385392; OMIM: 608547.0008; dbSNP: rs9934438

NCBI 1000 Genomes Browser:

rs9934438

Molecular consequence:

NM_001311311.1:c.174-136C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_024006.6:c.174-136C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_206824.2:c.173+1000C>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000083009	OMIM	no assertion criteria provided	drug response (Aug 22, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000083009

OMIM

no assertion criteria provided

drug response
(Aug 22, 2013)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 31, 2019

ClinVar

Relating variation to medicine