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CYP2C19*9

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Interpretation:
drug response​

Review status:
practice guideline
Submissions:
1 (Most recent: Mar 1, 2018)
Accession:
VCV000039352.1
Variation ID:
39352
Description:
single nucleotide variant
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NM_000769.1(CYP2C19):c.431G>A (p.Arg144His)

Allele ID
47950
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.33
Genomic location
10: 94775489 (GRCh38) GRCh38 UCSC
10: 96535246 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.96535246G>A
NC_000010.11:g.94775489G>A
NG_008384.3:g.17809G>A
NM_000769.4:c.431G>A MANE Select NP_000760.1:p.Arg144His missense
Protein change
R144H
Other names
CYP2C19*9
Canonical SPDI
NC_000010.11:94775488:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00280 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00392
The Genome Aggregation Database (gnomAD), exomes 0.00089
Trans-Omics for Precision Medicine (TOPMed) 0.00412
1000 Genomes Project 0.00280
The Genome Aggregation Database (gnomAD) 0.00401
Links
dbSNP: rs17884712
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
CYP2C19: decreased function
drug response 1 practice guideline - RCV000783660.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP2C19 - - GRCh38
GRCh37
238 668

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
drug response
(-)
practice guideline
Method: curation
CYP2C19: decreased function
Allele origin: germline
Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000922183.1
Submitted: (Mar 01, 2018)
Evidence details
Other databases
https://www.pharmgkb.org/haploty…
https://cpicpgx.org

Functional evidence

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Functional consequence Method Result Submitter Supporting information
Decreased function
Clinical Pharmacogenetics Implementation Consortium
Accession: SCV000922183.1
Submitted: (Mar 01, 2018)
Evidence details
Other databases
https://www.pharmgkb.org/haploty…
https://cpicpgx.org

Citations for this variant

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Title Author Journal Year Link
https://www.pharmgkb.org/haplotype/PA166128333 - - - -
https://cpicpgx.org - - - -

Text-mined citations for rs17884712...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021