Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Val1433Ile (p.V1433I)
(
ENST00000370225.4 )
ABCA4 p.Val1433Ile (p.V1433I) ( ENST00000370225.4 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 105163
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.4075G>A
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.4297G>A
- Clinical Significance Description
- no classifications from unflagged records
- Clinical Significance Last Update
- 2023-07-23
- Clinical Significance Review Status
- no classifications from unflagged records
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000408575
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
Drugs