Annotation Detail
Information
- Associated Genes
- OCA2
- Associated Variants
-
OCA2 p.Gly782Arg (p.G782R)
(
ENST00000354638.8,
ENST00000353809.9 )
OCA2 p.Gly782Arg (p.G782R) ( ENST00000353809.9, ENST00000354638.8 ) - Associated Disease
- Tyrosinase-positive oculocutaneous albinism
- Source Database
- ClinVar
- Description
- NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) AND Tyrosinase-positive oculocutaneous albinism
- ClinVar Allele ID
- 208170
- ClinVar RefSeq Alternation Syntax
- NM_001300984.2:c.2272G>A
- ClinVar RefSeq Alternation Syntax
- NM_000275.3:c.2344G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-02-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000193498
- ClinVar Disease
- Tyrosinase-positive oculocutaneous albinism
- Observed Origin Sample
- germline
Drugs