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CYP2C19*3 AND clopidogrel response - Efficacy, Toxicity/ADR

Clinical significance:drug response (Last evaluated: Jan 12, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211151.2

Allele description

NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter)

Gene:
CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter)
Other names:
CYP2C19, TRP212TER (rs4986893); CYP2C19m2; CYP2C19*3
HGVS:
  • NC_000010.11:g.94780653G>A
  • NG_008384.3:g.22973G>A
  • NM_000769.4:c.636G>AMANE SELECT
  • NP_000760.1:p.Trp212Ter
  • NC_000010.10:g.96540410G>A
  • NM_000769.2:c.636G>A
Protein change:
W212*; TRP212TER
Links:
Genetic Testing Registry (GTR): GTR000569665; PharmGKB: 981201917; PharmGKB: 981201917PA449053; PharmGKB Clinical Annotation: 981201917; OMIM: 124020.0003; dbSNP: rs4986893
NCBI 1000 Genomes Browser:
rs4986893
Molecular consequence:
  • NM_000769.4:c.636G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
clopidogrel response - Efficacy, Toxicity/ADR
Identifiers:
MedGen: CN236509

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268362PharmGKBreviewed by expert panel
drug response
(Jan 12, 2017)
Condition: clopidogrel response - Efficacy, Toxicity/ADR
Drug reported used for: Acute coronary syndrome
germlinecuration

PubMed (41)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268362

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

The effect of CYP2C19 polymorphism on the pharmacokinetics and pharmacodynamics of clopidogrel: a possible mechanism for clopidogrel resistance.

Kim KA, Park PW, Hong SJ, Park JY.

Clin Pharmacol Ther. 2008 Aug;84(2):236-42. doi: 10.1038/clpt.2008.20. Epub 2008 Mar 5.

PubMed [citation]
PMID:
18323861

Inhibition of ADP-induced platelet aggregation by clopidogrel is related to CYP2C19 genetic polymorphisms.

Chen BL, Zhang W, Li Q, Li YL, He YJ, Fan L, Wang LS, Liu ZQ, Zhou HH.

Clin Exp Pharmacol Physiol. 2008 Aug;35(8):904-8. doi: 10.1111/j.1440-1681.2008.04915.x. Epub 2008 Mar 13.

PubMed [citation]
PMID:
18346178
See all PubMed Citations (41)

Details of each submission

From PharmGKB, SCV000268362.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (41)

Description

PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.

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

Last Updated: Nov 27, 2021

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