chr15:27845047:C>T Detail (hg38) (OCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:28,090,193-28,090,193 View the variant detail on this assembly version. |
| hg38 | chr15:27,845,047-27,845,047 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001300984.1:c.2272G>A | NP_001287913.1:p.Gly758Arg |
| NM_000275.2:c.2344G>A | NP_000266.2:p.Gly782Arg | |
| Ensemble | ENST00000353809.9:c.2272G>A | ENST00000353809.9:p.Gly758Arg |
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 |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2015-02-26 | criteria provided, single submitter | Tyrosinase-positive oculocutaneous albinism |
germline
|
Detail |
|
Pathogenic
|
2024-01-15 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-10-06 | criteria provided, single submitter | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
unknown
|
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.2344G>A (p.Gly782Arg) AND Tyrosinase-positive oculocutaneous albinism | ClinVar | Detail |
| NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) AND not provided | ClinVar | Detail |
| NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) AND SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 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
- rs797045839 dbSNP
- Genome
- hg38
- Position
- chr15:27,845,047-27,845,047
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser