Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Leu2241= (p.L2241=)
(
ENST00000370225.4 )
ABCA4 p.Leu2241= (p.L2241=) ( ENST00000370225.4 ) - Associated Disease
- ABCA4-related disorder
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.6721C>T (p.Leu2241=) AND ABCA4-related disorder
- ClinVar Allele ID
- 3214497
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.6499C>T
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.6721C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-04-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004532103
- ClinVar Disease
- ABCA4-related disorder
- Observed Origin Sample
- germline
Drugs