Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.? (p.?)
(
ENST00000649773.1,
ENST00000370225.4 )
ABCA4 p.? (p.?) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.1A>G (p.Met1Val) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 104999
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.1A>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2021-01-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000408483
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs