Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg2149Ter (p.R2149*)
(
ENST00000370225.4 )
ABCA4 p.Arg2149Ter (p.R2149*) ( ENST00000370225.4 ) - Associated Disease
- macular degeneration
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) AND multiple conditions
- ClinVar Allele ID
- 105349
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.6223C>T
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.6445C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-11-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000414922
- ClinVar Disease
- Macular degeneration
- Observed Origin Sample
- unknown
Drugs