Annotation Detail
Information
- Associated Genes
- OCA2
- Associated Variants
-
OCA2 p.Met394Ile (p.M394I)
(
ENST00000354638.8,
ENST00000353809.9 )
OCA2 p.Met394Ile (p.M394I) ( ENST00000353809.9, ENST00000354638.8 ) - Associated Disease
- Tyrosinase-positive oculocutaneous albinism
- Source Database
- ClinVar
- Description
- NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) AND Tyrosinase-positive oculocutaneous albinism
- ClinVar Allele ID
- 16004
- ClinVar RefSeq Alternation Syntax
- NM_000275.3:c.1182G>A
- ClinVar RefSeq Alternation Syntax
- NM_001300984.2:c.1110G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000001016
- ClinVar Disease
- Tyrosinase-positive oculocutaneous albinism
- Observed Origin Sample
- germline
- Pubmed
- 15942220
Drugs