Annotation Detail
Information
- Associated Genes
- OCA2
- Associated Variants
-
OCA2 p.Asn273_Trp274delinsLysVal (p.N273_W274delinsKV)
(
ENST00000354638.8,
ENST00000353809.9 )
OCA2 p.Asn273_Trp274delinsLysVal (p.N273_W274delinsKV) ( ENST00000353809.9, ENST00000354638.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) AND not provided
- ClinVar Allele ID
- 195868
- ClinVar RefSeq Alternation Syntax
- NM_001300984.2:c.819_822delinsGGTC
- ClinVar RefSeq Alternation Syntax
- NM_000275.3:c.819_822delinsGGTC
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-07-23
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000486337
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs