Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Ser1071Leu (p.S1071L)
(
ENST00000370225.4 )
ABCA4 p.Ser1071Leu (p.S1071L) ( ENST00000370225.4 ) - Associated Disease
- ABCA4-related disorder
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) AND ABCA4-related disorder
- ClinVar Allele ID
- 105097
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.3212C>T
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.2990C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-06-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002255094
- ClinVar Disease
- ABCA4-related disorder
- Observed Origin Sample
- germline
Drugs