Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg1517Ser (p.R1517S)
(
ENST00000370225.4 )
ABCA4 p.Arg1517Ser (p.R1517S) ( ENST00000370225.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.4549C>A (p.Arg1517Ser) AND not provided
- ClinVar Allele ID
- 105188
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.4549C>A
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.4327C>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000085652
- ClinVar Disease
- not provided
- Observed Origin Sample
- not provided
Drugs