chr8:18258370:G>A Detail (hg19) (NAT2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:18,258,370-18,258,370 |
| hg38 | chr8:18,400,860-18,400,860 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000015.2:c.857G>A | NP_000006.2:p.Gly286Glu |
| Ensemble | ENST00000286479.4:c.857G>A | ENST00000286479.4:p.Gly286Glu |
| ENST00000520116.1:c.467G>A | ENST00000520116.1:p.Gly156Glu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.085 |
| ToMMo:0.090 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.155 |
Prediction
ClinVar
| Clinical Significance |
drug response
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
drug response
|
2012-10-28 | no assertion criteria provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.204 | rheumatoid arthritis | In this study, the six polymorphisms associated with rheumatoid arthritis (RA), ... | BeFree | 17985847 | Detail |
| 0.016 | rheumatoid arthritis | In this study, the six polymorphisms associated with rheumatoid arthritis (RA), ... | BeFree | 17985847 | Detail |
| 0.020 | rheumatoid arthritis | In this study, the six polymorphisms associated with rheumatoid arthritis (RA), ... | BeFree | 17985847 | Detail |
| 0.018 | Slow acetylator due to N-acetyltransferase enzyme variant | We analyzed three NAT2 genetic variations, c.481C>T, c.590G>A (p.R197Q) an... | BeFree | 16571112 | Detail |
| 0.018 | Slow acetylator due to N-acetyltransferase enzyme variant | We investigated three genetic variations, c.481C>T, c.590G>A (p.R197Q) and... | BeFree | 16827944 | Detail |
| 0.027 | Glioma | Genetic polymorphisms of EGF 5'-UTR and NAT2 857G/A associated with glioma in a ... | BeFree | 22782629 | Detail |
| <0.001 | Glioma | Genetic polymorphisms of EGF 5'-UTR and NAT2 857G/A associated with glioma in a ... | BeFree | 22782629 | Detail |
| 0.094 | colorectal cancer | We conducted a family-based case-control study to investigate the association be... | BeFree | 21618522 | Detail |
| 0.051 | colorectal carcinoma | We conducted a family-based case-control study to investigate the association be... | BeFree | 21618522 | Detail |
| 0.003 | colorectal carcinoma | We conducted a family-based case-control study to investigate the association be... | BeFree | 21618522 | Detail |
| 0.010 | colorectal cancer | We conducted a family-based case-control study to investigate the association be... | BeFree | 21618522 | Detail |
| 0.030 | colorectal cancer | We conducted a family-based case-control study to investigate the association be... | BeFree | 21618522 | Detail |
| 0.010 | colorectal carcinoma | We conducted a family-based case-control study to investigate the association be... | BeFree | 21618522 | Detail |
| <0.001 | male infertility | Novel interactions were also observed between the MR of SEC and rs1042389 in CYP... | BeFree | 24488272 | Detail |
| 0.132 | male infertility | Novel interactions were also observed between the MR of SEC and rs1042389 in CYP... | BeFree | 24488272 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000015.2(NAT2):c.857G>A (p.Gly286Glu) AND Slow acetylator due to N-acetyltransferase enzyme varia... | ClinVar | Detail |
| In this study, the six polymorphisms associated with rheumatoid arthritis (RA), N-acetyltransferase2... | DisGeNET | Detail |
| In this study, the six polymorphisms associated with rheumatoid arthritis (RA), N-acetyltransferase2... | DisGeNET | Detail |
| In this study, the six polymorphisms associated with rheumatoid arthritis (RA), N-acetyltransferase2... | DisGeNET | Detail |
| We analyzed three NAT2 genetic variations, c.481C>T, c.590G>A (p.R197Q) and c.857G>A (p.G28... | DisGeNET | Detail |
| We investigated three genetic variations, c.481C>T, c.590G>A (p.R197Q) and c.857G>A (p.G286... | DisGeNET | Detail |
| Genetic polymorphisms of EGF 5'-UTR and NAT2 857G/A associated with glioma in a case control study o... | DisGeNET | Detail |
| Genetic polymorphisms of EGF 5'-UTR and NAT2 857G/A associated with glioma in a case control study o... | DisGeNET | Detail |
| We conducted a family-based case-control study to investigate the association between polymorphisms ... | DisGeNET | Detail |
| We conducted a family-based case-control study to investigate the association between polymorphisms ... | DisGeNET | Detail |
| We conducted a family-based case-control study to investigate the association between polymorphisms ... | DisGeNET | Detail |
| We conducted a family-based case-control study to investigate the association between polymorphisms ... | DisGeNET | Detail |
| We conducted a family-based case-control study to investigate the association between polymorphisms ... | DisGeNET | Detail |
| We conducted a family-based case-control study to investigate the association between polymorphisms ... | DisGeNET | Detail |
| Novel interactions were also observed between the MR of SEC and rs1042389 in CYP2B6, rs1048943 in CY... | DisGeNET | Detail |
| Novel interactions were also observed between the MR of SEC and rs1042389 in CYP2B6, rs1048943 in CY... | 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
- rs1799931 dbSNP
- Genome
- hg19
- Position
- chr8:18,258,370-18,258,370
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1200
- Mean of sample read depth (HGVD)
- 59.07
- Standard deviation of sample read depth (HGVD)
- 26.97
- Number of reference allele (HGVD)
- 2195
- Number of alternative allele (HGVD)
- 205
- Allele Frequency (HGVD)
- 0.08541666666666667
- Gene Symbol (HGVD)
- NAT2
- 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))
- rs1799931
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0904
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1515
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8532
- East Asian Allele Counts (ExAC)
- 1319
- East Asian Heterozygous Counts (ExAC)
- 1109
- East Asian Homozygous Counts (ExAC)
- 105
- East Asian Allele Frequency (ExAC)
- 0.15459446788560713
- Chromosome Counts in All Race (ExAC)
- 111084
- Allele Counts in All Race (ExAC)
- 6140
- Heterozygous Counts in All Race (ExAC)
- 5534
- Homozygous Counts in All Race (ExAC)
- 303
- Allele Frequency in All Race (ExAC)
- 0.05527348673076231
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