Annotation Detail
Information
- Associated Genes
- OCA2
- Associated Variants
-
OCA2 p.Pro198Leu (p.P198L)
(
ENST00000353809.9,
ENST00000354638.8 )
OCA2 p.Pro198Leu (p.P198L) ( ENST00000353809.9, ENST00000354638.8 ) - Associated Disease
- Tyrosinase-positive oculocutaneous albinism
- Source Database
- ClinVar
- Description
- NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) AND Tyrosinase-positive oculocutaneous albinism
- ClinVar Allele ID
- 195224
- ClinVar RefSeq Alternation Syntax
- NM_000275.3:c.593C>T
- ClinVar RefSeq Alternation Syntax
- NM_001300984.2:c.593C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-01-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000604129
- ClinVar Disease
- Tyrosinase-positive oculocutaneous albinism
- Observed Origin Sample
- germline
Drugs