chr2:38302530:A>G Detail (hg19) (CYP1B1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:38,302,530-38,302,530 |
| hg38 | chr2:38,075,387-38,075,387 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000104.3:c.2T>C | NP_000095.2:p.? |
| Ensemble | ENST00000490576.2:c.2T>C | ENST00000490576.2:p.? |
| ENST00000494864.1:c.-70-4077T>C |
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 |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2001-05-01 | no assertion criteria provided | anterior segment dysgenesis 6 |
germline
|
Detail |
|
Likely pathogenic
|
2023-02-16 | criteria provided, single submitter | primary congenital glaucoma |
germline
|
Detail |
|
Pathogenic
|
2023-09-28 | criteria provided, single submitter | Congenital glaucoma |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.361 | Irido-corneo-trabecular dysgenesis (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr) AND Anterior segment dysgenesis 6 | ClinVar | Detail |
| NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr) AND Primary congenital glaucoma | ClinVar | Detail |
| NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr) AND Congenital glaucoma | ClinVar | Detail |
| NA | 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
- rs72549389 dbSNP
- Genome
- hg19
- Position
- chr2:38,302,530-38,302,530
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8238
- 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)
- 113464
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.8133681167595E-6
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