Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Pro1780Ala (p.P1780A)
(
ENST00000370225.4 )
ABCA4 p.Pro1780Ala (p.P1780A) ( ENST00000370225.4 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 22951
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5116C>G
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.5338C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-02-07
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008373
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
- Pubmed
- 10746567
Drugs