chr15:28016172:CCAG>GACC Detail (hg38) (OCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:28,261,318-28,261,321 View the variant detail on this assembly version. |
| hg38 | chr15:28,016,172-28,016,175 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001300984.1:c.819_822delinsGGTC | NP_001287913.1:p.Asn273_Trp274delinsLysVal |
| NM_000275.2:c.819_822delinsGGTC | NP_000266.2:p.Asn273_Trp274delinsLysVal | |
| Ensemble | ENST00000353809.9:c.819_822delinsGGTC | ENST00000353809.9:p.Asn273_Trp274delinsLysVal |
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
|
2021-11-07 | criteria provided, multiple submitters, no conflicts | Tyrosinase-positive oculocutaneous albinism |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2023-07-23 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-12-20 | criteria provided, single submitter | OCA2-related disorder |
germline
|
Detail |
|
Pathogenic
|
2023-10-19 | 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.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) AND Tyrosinase-positive oculocut... | ClinVar | Detail |
| NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) AND not provided | ClinVar | Detail |
| NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) AND OCA2-related disorder | ClinVar | Detail |
| NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) AND SKIN/HAIR/EYE PIGMENTATION 1... | 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
- rs797044784 dbSNP
- Genome
- hg38
- Position
- chr15:28,016,172-28,016,175
- Variant Type
- snv
- Reference Allele
- CCAG
- Alternative Allele
- GACC
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