chr15:28200303:C>A Detail (hg19) (OCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:28,200,303-28,200,303 |
| hg38 | chr15:27,955,157-27,955,157 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001300984.1:c.1770+1G>T | |
| NM_000275.2:c.1842+1G>T | ||
| Ensemble | ENST00000353809.9:c.1770+1G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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
|
1994-02-24 | no assertion criteria provided | Tyrosinase-positive oculocutaneous albinism |
germline
|
Detail |
|
Pathogenic
|
2024-01-11 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2023-07-31 | criteria provided, single submitter | oculocutaneous albinism |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.563 | Oculocutaneous albinism type 2 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000275.3(OCA2):c.1842+1G>T AND Tyrosinase-positive oculocutaneous albinism | ClinVar | Detail |
| NM_000275.3(OCA2):c.1842+1G>T AND not provided | ClinVar | Detail |
| NM_000275.3(OCA2):c.1842+1G>T AND Oculocutaneous albinism | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs387906240 dbSNP
- Genome
- hg19
- Position
- chr15:28,200,303-28,200,303
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser