Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 c.4540-2A>G
(
ENST00000370225.4 )
ABCA4 c.4540-2A>G ( ENST00000370225.4 ) - Associated Disease
- cone-rod dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.4540-2A>G AND Cone-rod dystrophy
- ClinVar Allele ID
- 98776
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.4540-2A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003324503
- ClinVar Disease
- Cone-rod dystrophy
- Observed Origin Sample
- germline
Drugs