chr8:142873164:G>A Detail (hg38) (CYP11B1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:143,954,580-143,954,580 View the variant detail on this assembly version. |
| hg38 | chr8:142,873,164-142,873,164 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000497.3:c.*1209C>T | |
| Ensemble | ENST00000292427.10:c.*1209C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | glucocorticoid-remediable aldosteronism |
germline
|
Detail |
|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | Deficiency of steroid 11-beta-monooxygenase |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000497.4(CYP11B1):c.*1209C>T AND Glucocorticoid-remediable aldosteronism | ClinVar | Detail |
| NM_000497.4(CYP11B1):c.*1209C>T AND Deficiency of steroid 11-beta-monooxygenase | ClinVar | 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
- rs757505651 dbSNP
- Genome
- hg38
- Position
- chr8:142,873,164-142,873,164
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs757505651
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser