Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Cys54Tyr (p.C54Y)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.Cys54Tyr (p.C54Y) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Stargardt disease
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) AND Stargardt disease
- ClinVar Allele ID
- 104955
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.161G>A
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.161G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-11-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000826094
- ClinVar Disease
- Stargardt disease
- Observed Origin Sample
- germline
Drugs