chr15:27926169:C>G Detail (hg38) (OCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:28,171,315-28,171,315 View the variant detail on this assembly version. |
| hg38 | chr15:27,926,169-27,926,169 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001300984.1:c.1965G>C | NP_001287913.1:p.Trp655Cys |
| NM_000275.2:c.2037G>C | NP_000266.2:p.Trp679Cys | |
| Ensemble | ENST00000353809.9:c.1965G>C | ENST00000353809.9:p.Trp655Cys |
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 |
|---|---|---|---|---|---|
Likely pathogenic
|
2022-06-02 | criteria provided, multiple submitters, no conflicts | Tyrosinase-positive oculocutaneous albinism |
germline
unknown
|
Detail |
Pathogenic
Likely pathogenic
|
2024-01-30 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2023-07-20 | criteria provided, conflicting interpretations | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
unknown
|
Detail |
|
Likely pathogenic
|
2023-06-06 | 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.2037G>C (p.Trp679Cys) AND Tyrosinase-positive oculocutaneous albinism | ClinVar | Detail |
| NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) AND not provided | ClinVar | Detail |
| NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) AND SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | ClinVar | Detail |
| NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) AND Oculocutaneous albinism | 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
- rs121918169 dbSNP
- Genome
- hg38
- Position
- chr15:27,926,169-27,926,169
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8644
- 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)
- 121196
- Allele Counts in All Race (ExAC)
- 18
- Heterozygous Counts in All Race (ExAC)
- 18
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.4851975312716592E-4
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