Annotation Detail
Information
- Associated Genes
- OCA2
- Associated Variants
-
OCA2 p.Ser289ArgfsTer7 (p.S289Rfs*7)
(
ENST00000353809.9,
ENST00000354638.8 )
OCA2 p.Ser289ArgfsTer7 (p.S289Rfs*7) ( ENST00000353809.9, ENST00000354638.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000275.3(OCA2):c.867del (p.Ser289fs) AND not provided
- ClinVar Allele ID
- 195867
- ClinVar RefSeq Alternation Syntax
- NM_000275.3:c.867del
- ClinVar RefSeq Alternation Syntax
- NM_001300984.2:c.867del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-06-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000180124
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs