Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 c.5714+5G>A
(
ENST00000370225.4 )
ABCA4 c.5714+5G>A ( ENST00000370225.4 ) - Associated Disease
- cone-rod dystrophy 3
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.5714+5G>A AND Cone-rod dystrophy 3
- ClinVar Allele ID
- 105292
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.5714+5G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-07-23
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000332324
- ClinVar Disease
- Cone-rod dystrophy 3
- Observed Origin Sample
- germline
- Pubmed
- 18285826
- Pubmed
- 9466990
- Pubmed
- 31576780
- Pubmed
- 12796258
Drugs