Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg1108Cys (p.R1108C)
(
ENST00000370225.4 )
ABCA4 p.Arg1108Cys (p.R1108C) ( ENST00000370225.4 ) - Associated Disease
- Stargardt disease
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) AND Stargardt disease
- ClinVar Allele ID
- 98774
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.3322C>T
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.3100C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-06-23
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001002834
- ClinVar Disease
- Stargardt disease
- Observed Origin Sample
- inherited
Drugs