chr10:94781859:G>A Detail (hg38) (CYP2C19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:96,541,616-96,541,616 View the variant detail on this assembly version. |
| hg38 | chr10:94,781,859-94,781,859 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000769.2:c.681G>A | NP_000760.1:p.Pro227= |
| Ensemble | ENST00000371321.9:c.681G>A | ENST00000371321.9:p.Pro227= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.280 |
| ToMMo:0.299 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.310 |
Prediction
ClinVar
| Clinical Significance | Likely benign; other |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
drug response
|
2009-06-01 | no assertion criteria provided | Mephenytoin, poor metabolism of |
germline
|
Detail |
|
drug response
|
2009-06-01 | no assertion criteria provided | Proguanil, poor metabolism of |
germline
|
Detail |
|
drug response
|
2018-05-14 | no assertion criteria provided |
germline
|
Detail | |
other
|
2018-08-07 | criteria provided, single submitter | not provided |
germline
|
Detail |
Likely benign
|
2018-03-09 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
drug response
|
practice guideline |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | Non-small cell lung carcinoma | CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), C... | BeFree | 17450472 | Detail |
| <0.001 | Non-small cell lung carcinoma | CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), C... | BeFree | 17450472 | Detail |
| 0.002 | Non-small cell lung carcinoma | CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), C... | BeFree | 17450472 | Detail |
| <0.001 | Non-small cell lung carcinoma | CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), C... | BeFree | 17450472 | Detail |
| <0.001 | Angina, Unstable | This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP... | BeFree | 23993903 | Detail |
| 0.020 | Malignant neoplasm of breast | [Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP... | GAD | 18024866 | Detail |
| 0.003 | Angina, Unstable | This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP... | BeFree | 23993903 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) AND Mephenytoin, poor metabolism of | ClinVar | Detail |
| NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) AND Proguanil, poor metabolism of | ClinVar | Detail |
| NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) AND Clopidogrel response | ClinVar | Detail |
| NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) AND not provided | ClinVar | Detail |
| NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) AND not specified | ClinVar | Detail |
| CYP2C19*2 AND CYP2C19: no function | ClinVar | Detail |
| CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and C... | DisGeNET | Detail |
| CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and C... | DisGeNET | Detail |
| CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and C... | DisGeNET | Detail |
| CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and C... | DisGeNET | Detail |
| This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP2C19*2 (rs4244285) o... | DisGeNET | Detail |
| [Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 geno... | DisGeNET | Detail |
| This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP2C19*2 (rs4244285) o... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs4244285 dbSNP
- Genome
- hg38
- Position
- chr10:94,781,859-94,781,859
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1201
- Mean of sample read depth (HGVD)
- 89.63
- Standard deviation of sample read depth (HGVD)
- 37.63
- Number of reference allele (HGVD)
- 1730
- Number of alternative allele (HGVD)
- 672
- Allele Frequency (HGVD)
- 0.279766860949209
- Gene Symbol (HGVD)
- CYP2C19
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs4244285
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2993
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5017
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8624
- East Asian Allele Counts (ExAC)
- 2676
- East Asian Heterozygous Counts (ExAC)
- 1856
- East Asian Homozygous Counts (ExAC)
- 410
- East Asian Allele Frequency (ExAC)
- 0.3102968460111317
- Chromosome Counts in All Race (ExAC)
- 119422
- Allele Counts in All Race (ExAC)
- 22168
- Heterozygous Counts in All Race (ExAC)
- 17260
- Homozygous Counts in All Race (ExAC)
- 2454
- Allele Frequency in All Race (ExAC)
- 0.18562743883036625
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