chr15:75042142:C>G Detail (hg19) (CYP1A2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:75,042,142-75,042,142 |
| hg38 | chr15:74,749,801-74,749,801 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000761.4:c.63C>G | NP_000752.2:p.Phe21Leu |
| Ensemble | ENST00000343932.5:c.63C>G | ENST00000343932.5:p.Phe21Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.002 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.030 | Malignant neoplasm of breast | The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and C... | BeFree | 21329464 | Detail |
| 0.007 | breast carcinoma | The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and C... | BeFree | 21329464 | Detail |
| 0.036 | Malignant neoplasm of breast | The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and C... | BeFree | 21329464 | Detail |
| 0.006 | breast carcinoma | The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and C... | BeFree | 21329464 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenyla... | DisGeNET | Detail |
| The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenyla... | DisGeNET | Detail |
| The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenyla... | DisGeNET | Detail |
| The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenyla... | 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
- -
- Genome
- hg19
- Position
- chr15:75,042,142-75,042,142
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8604
- East Asian Allele Counts (ExAC)
- 21
- East Asian Heterozygous Counts (ExAC)
- 21
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0024407252440725243
- Chromosome Counts in All Race (ExAC)
- 112686
- Allele Counts in All Race (ExAC)
- 21
- Heterozygous Counts in All Race (ExAC)
- 21
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.8635855385762206E-4
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