Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg255Cys (p.R255C)
(
ENST00000649773.1,
ENST00000370225.4 )
ABCA4 p.Arg255Cys (p.R255C) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- cone-rod dystrophy 3
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) AND Cone-rod dystrophy 3
- ClinVar Allele ID
- 152795
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.763C>T
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.763C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000132594
- ClinVar Disease
- Cone-rod dystrophy 3
- Observed Origin Sample
- not provided
Drugs