Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Leu1201Arg (p.L1201R)
(
ENST00000370225.4 )
ABCA4 p.Leu1201Arg (p.L1201R) ( ENST00000370225.4 ) - Associated Disease
- macular degeneration
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) AND Macular degeneration
- ClinVar Allele ID
- 22942
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.3380T>G
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.3602T>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000401597
- ClinVar Disease
- Macular degeneration
- Observed Origin Sample
- germline
Drugs