Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg18= (p.R18=)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.Arg18= (p.R18=) ( ENST00000649773.1, ENST00000370225.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.52C>A (p.Arg18=) AND not provided
- ClinVar Allele ID
- 1531209
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.52C>A
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.52C>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-01-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002210699
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs