chr8:142912587:C>T Detail (hg38) (CYP11B2, LOC106799834)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:143,994,003-143,994,003 View the variant detail on this assembly version. |
| hg38 | chr8:142,912,587-142,912,587 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000498.3:c.1341G>A | NP_000489.3:p.Met447Ile |
| Ensemble | ENST00000323110.2:c.1341G>A | ENST00000323110.2:p.Met447Ile |
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 | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2020-10-14 | no assertion criteria provided | Corticosterone methyl oxidase type II deficiency |
germline
|
Detail |
Likely benign
|
2023-12-18 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2023-06-29 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile) AND Corticosterone methyl oxidase type II deficiency | ClinVar | Detail |
| NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile) AND not provided | ClinVar | Detail |
| NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile) AND Inborn genetic diseases | 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
- rs544454389 dbSNP
- Genome
- hg38
- Position
- chr8:142,912,587-142,912,587
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8634
- 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)
- 121110
- Allele Counts in All Race (ExAC)
- 22
- Heterozygous Counts in All Race (ExAC)
- 22
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.8165304268846503E-4
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