chr8:144080528:G>A Detail (hg38) (EXOSC4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:145,135,431-145,135,431 View the variant detail on this assembly version. |
| hg38 | chr8:144,080,528-144,080,528 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019037.2:c.665G>A | NP_061910.1:p.Arg222Gln |
| Ensemble | ENST00000316052.6:c.665G>A | ENST00000316052.6:p.Arg222Gln |
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:<0.001 |
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 |
|---|---|---|---|---|---|
| 0.439 | obesity | Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP... | BeFree | 15972940 | Detail |
| 0.641 | obesity | Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP... | BeFree | 15972940 | Detail |
| 0.002 | obesity | Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP... | BeFree | 15972940 | Detail |
| <0.001 | eclampsia | In this retrospective case-control study, 103 patients with PIH [gestational hyp... | BeFree | 20070288 | Detail |
| 0.001 | eclampsia | In this retrospective case-control study, 103 patients with PIH [gestational hyp... | BeFree | 20070288 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP A19G), the leptin r... | DisGeNET | Detail |
| Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP A19G), the leptin r... | DisGeNET | Detail |
| Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP A19G), the leptin r... | DisGeNET | Detail |
| In this retrospective case-control study, 103 patients with PIH [gestational hypertension (GH) n = 3... | DisGeNET | Detail |
| In this retrospective case-control study, 103 patients with PIH [gestational hypertension (GH) n = 3... | 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
- hg38
- Position
- chr8:144,080,528-144,080,528
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8568
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120350
- Allele Counts in All Race (ExAC)
- 203
- Heterozygous Counts in All Race (ExAC)
- 203
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.0016867469879518072
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