chr15:28234776:A>T Detail (hg19) (OCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:28,234,776-28,234,776 |
| hg38 | chr15:27,989,630-27,989,630 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000275.2:c.1153T>A | NP_000266.2:p.Phe385Ile |
| NM_001300984.1:c.1081T>A | NP_001287913.1:p.Phe361Ile | |
| Ensemble | ENST00000354638.8:c.1153T>A | ENST00000354638.8:p.Phe385Ile |
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
|
2015-01-13 | criteria provided, single submitter | not specified |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-01-31 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
|
Uncertain significance
|
2021-11-07 | criteria provided, single submitter | Tyrosinase-positive oculocutaneous albinism |
germline
|
Detail |
|
Uncertain significance
|
2023-06-23 | criteria provided, single submitter | OCA2-related disorder |
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.1153T>A (p.Phe385Ile) AND not specified | ClinVar | Detail |
| NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) AND not provided | ClinVar | Detail |
| NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) AND Tyrosinase-positive oculocutaneous albinism | ClinVar | Detail |
| NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) AND OCA2-related disorder | 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
- rs137956605 dbSNP
- Genome
- hg19
- Position
- chr15:28,234,776-28,234,776
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8646
- 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)
- 120740
- Allele Counts in All Race (ExAC)
- 75
- Heterozygous Counts in All Race (ExAC)
- 71
- Homozygous Counts in All Race (ExAC)
- 2
- Allele Frequency in All Race (ExAC)
- 6.211694550273314E-4
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