Annotation Detail
Information
- Associated Genes
- OCA2
- Associated Variants
-
OCA2 c.1503+5G>A
(
ENST00000354638.8,
ENST00000353809.9 )
OCA2 c.1503+5G>A ( ENST00000353809.9, ENST00000354638.8 ) - Associated Disease
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
- Source Database
- ClinVar
- Description
- NM_000275.3(OCA2):c.1503+5G>A AND SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
- ClinVar Allele ID
- 208172
- ClinVar RefSeq Alternation Syntax
- NM_001300984.2:c.1431+5G>A
- ClinVar RefSeq Alternation Syntax
- NM_000275.3:c.1503+5G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003468884
- ClinVar Disease
- SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
- Observed Origin Sample
- unknown
Drugs