Annotation Detail
Information
- Associated Genes
- OCA2
- Associated Variants
-
OCA2 p.Asn489Asp (p.N489D)
(
ENST00000353809.9,
ENST00000354638.8 )
OCA2 p.Asn489Asp (p.N489D) ( ENST00000353809.9, ENST00000354638.8 ) - Associated Disease
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES Tyrosinase-positive oculocutaneous albinism
- Source Database
- ClinVar
- Description
- NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) AND multiple conditions
- ClinVar Allele ID
- 16000
- ClinVar RefSeq Alternation Syntax
- NM_001300984.2:c.1393A>G
- ClinVar RefSeq Alternation Syntax
- NM_000275.3:c.1465A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000762940
- ClinVar Disease
- Tyrosinase-positive oculocutaneous albinism
- ClinVar Disease
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
- Observed Origin Sample
- unknown
Drugs