Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Val2050Leu (p.V2050L)
(
ENST00000370225.4 )
ABCA4 p.Val2050Leu (p.V2050L) ( ENST00000370225.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND not provided
- ClinVar Allele ID
- 22923
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.6148G>C
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5926G>C
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000078671
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Observed Origin Sample
- unknown
Drugs