Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Ala1028Val (p.A1028V)
(
ENST00000370225.4 )
ABCA4 p.Ala1028Val (p.A1028V) ( ENST00000370225.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val) AND not provided
- ClinVar Allele ID
- 22920
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.3083C>T
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.2861C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001040974
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs