Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg943Gly (p.R943G)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.Arg943Gly (p.R943G) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.2827C>G (p.Arg943Gly) AND not provided
- ClinVar Allele ID
- 105050
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.2827C>G
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.2605C>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000085509
- ClinVar Disease
- not provided
- Observed Origin Sample
- not provided
Drugs