chr8:142914393:G>A Detail (hg38) (CYP11B2, LOC106799834)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:143,995,809-143,995,809 View the variant detail on this assembly version. |
| hg38 | chr8:142,914,393-142,914,393 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000498.3:c.825C>T | NP_000489.3:p.Tyr275= |
| Ensemble | ENST00000323110.2:c.825C>T | ENST00000323110.2:p.Tyr275= |
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 |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
Likely benign
|
2024-01-31 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2020-09-16 | no assertion criteria provided | Corticosterone methyl oxidase type II deficiency |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.239 | Hypertensive disease | In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of... | BeFree | 12924618 | Detail |
| 0.143 | Hypertensive disease | In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of... | BeFree | 12924618 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=) AND not provided | ClinVar | Detail |
| NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=) AND Corticosterone methyl oxidase type II deficiency | ClinVar | Detail |
| In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of the aldosterone syn... | DisGeNET | Detail |
| In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of the aldosterone syn... | 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
- rs5310 dbSNP
- Genome
- hg38
- Position
- chr8:142,914,393-142,914,393
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 7892
- 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)
- 109672
- Allele Counts in All Race (ExAC)
- 299
- Heterozygous Counts in All Race (ExAC)
- 297
- Homozygous Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 0.002726311182434897
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