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NM_000769.1(CYP2C19):c.-806C>T AND Clopidogrel response

Germline classification:
drug response (1 submission)
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:
RCV004813048.1

Allele description [Variation Report for NM_000769.1(CYP2C19):c.-806C>T]

NM_000769.1(CYP2C19):c.-806C>T

Genes:
CYP2C19:cytochrome P450 family 2 subfamily C member 19 [Gene - OMIM - HGNC]
LOC110599570:CYP2C19 promoter [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_000769.1(CYP2C19):c.-806C>T
Other names:
CYP2C19*17
HGVS:
  • NC_000010.11:g.94761900C>T
  • NG_008384.3:g.4220C>T
  • NG_055436.1:g.1260C>T
  • NM_000769.4:c.-806C>TMANE SELECT
  • NC_000010.10:g.96521657C>T
  • NM_000769.1:c.-806C>T
  • NM_000769.2:c.-806C>T
Links:
Genetic Testing Registry (GTR): GTR000569929; dbSNP: rs12248560
NCBI 1000 Genomes Browser:
rs12248560
Molecular consequence:
  • NM_000769.4:c.-806C>T - upstream transcript variant - [Sequence Ontology: SO:0001986]
Functional consequence:
  • effect on RNA abundance [PubMedVariation Ontology: 0010]
  • effect on promoter activity [PubMedVariation Ontology: 0153]

Condition(s)

Name:
Clopidogrel response
Synonyms:
Clopidogrel, poor metabolism of; Plavix response
Identifiers:
MedGen: C2674941

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005438653Faculty of Pharmacy, Damascus University
no assertion criteria provided
drug response
Condition: Clopidogrel Response
Drug reported used for: Coronary Artery Disease		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Faculty of Pharmacy, Damascus University, SCV005438653.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

rs12248560 is a SNP in the CYP2C19 gene and is linked to increased clopidogrel metabolic activation. rs12248560 is associated with increased enzyme activity of CYP2C19 and higher concentration of clopidogrel active metabolite.

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

Last Updated: Mar 22, 2025