Annotation Detail
Information
- Associated Genes
- OCA2
- Associated Variants
-
OCA2 p.Ser788= (p.S788=)
(
ENST00000354638.8,
ENST00000353809.9 )
OCA2 p.Ser788= (p.S788=) ( ENST00000353809.9, ENST00000354638.8 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000275.3(OCA2):c.2364G>A (p.Ser788=) AND not specified
- ClinVar Allele ID
- 255132
- ClinVar RefSeq Alternation Syntax
- NM_001300984.2:c.2292G>A
- ClinVar RefSeq Alternation Syntax
- NM_000275.3:c.2364G>A
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000242650
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs