Annotation Detail
Information
- Associated Genes
- ABCA4 LOC126805793
- Associated Variants
-
ABCA4 p.Gly1578Arg (p.G1578R)
(
ENST00000370225.4 )
ABCA4 p.Gly1578Arg (p.G1578R) ( ENST00000370225.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.4732G>A (p.Gly1578Arg) AND not provided
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 105203
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.4732G>A
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.4510G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-10-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000085667
- ClinVar Disease
- not provided
- Observed Origin Sample
- not provided
Drugs