Annotation Detail
Information
- Associated Genes
- OCA2
- Associated Variants
-
OCA2 p.Val443Ile (p.V443I)
(
ENST00000353809.9,
ENST00000354638.8 )
OCA2 p.Val443Ile (p.V443I) ( ENST00000353809.9, ENST00000354638.8 ) - Associated Disease
- OCA2-related disorder
- Source Database
- ClinVar
- Description
- NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) AND OCA2-related disorder
- ClinVar Allele ID
- 15994
- ClinVar RefSeq Alternation Syntax
- NM_000275.3:c.1327G>A
- ClinVar RefSeq Alternation Syntax
- NM_001300984.2:c.1255G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-02-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003415611
- ClinVar Disease
- OCA2-related disorder
- Observed Origin Sample
- germline
Drugs