Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Leu1971Arg (p.L1971R)
(
ENST00000370225.4 )
ABCA4 p.Leu1971Arg (p.L1971R) ( ENST00000370225.4 ) - Associated Disease
- Stargardt disease
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg) AND Stargardt disease
- ClinVar Allele ID
- 22932
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.5912T>G
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5690T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008347
- ClinVar Disease
- Stargardt disease
- Observed Origin Sample
- germline
- Pubmed
- 9781034
Drugs