CYP2C19*10 AND CYP2C19: decreased function

Clinical significance:drug response

Review status:4 stars out of maximum of 4 stars

practice guideline

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000783652.2

Allele description [Variation Report for CYP2C19*10]

NM_000769.1(CYP2C19):c.680C>T (p.Pro227Leu)

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.680C>T (p.Pro227Leu)
Other names:
CYP2C19*10
HGVS:
  • NC_000010.11:g.94781858C>T
  • NG_008384.3:g.24178C>T
  • NM_000769.4:c.680C>TMANE SELECT
  • NP_000760.1:p.Pro227Leu
  • NC_000010.10:g.96541615C>T
  • NM_000769.1:c.680C>T
Protein change:
P227L
Links:
Genetic Testing Registry (GTR): GTR000500489; dbSNP: rs6413438
NCBI 1000 Genomes Browser:
rs6413438
Molecular consequence:
  • NM_000769.4:c.680C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Decreased function

Condition(s)

Name:
CYP2C19: decreased function
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000922175Clinical Pharmacogenetics Implementation Consortiumpractice guideline
drug response
Condition: CYP2C19: decreased function
germlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot applicablenot providednot providednot providednot providednot providedcuration

Citations

PubMed

CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network.

Relling MV, Klein TE.

Clin Pharmacol Ther. 2011 Mar;89(3):464-7. doi: 10.1038/clpt.2010.279. Epub 2011 Jan 26. No abstract available.

PubMed [citation]
PMID:
21270786
PMCID:
PMC3098762

Details of each submission

From Clinical Pharmacogenetics Implementation Consortium, SCV000922175.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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