chr15:28014819:G>A Detail (hg38) (OCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:28,259,965-28,259,965 View the variant detail on this assembly version. |
| hg38 | chr15:28,014,819-28,014,819 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001300984.1:c.1001C>T | NP_001287913.1:p.Ala334Val |
| NM_000275.2:c.1001C>T | NP_000266.2:p.Ala334Val | |
| Ensemble | ENST00000353809.9:c.1001C>T | ENST00000353809.9:p.Ala334Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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 |
|---|---|---|---|---|---|
Pathogenic
Likely pathogenic
|
2022-08-06 | criteria provided, multiple submitters, no conflicts | Tyrosinase-positive oculocutaneous albinism |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2021-09-24 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-05-22 | 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.1001C>T (p.Ala334Val) AND Tyrosinase-positive oculocutaneous albinism | ClinVar | Detail |
| NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) AND not provided | ClinVar | Detail |
| NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) 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
- rs121918168 dbSNP
- Genome
- hg38
- Position
- chr15:28,014,819-28,014,819
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser