Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Leu1940Pro (p.L1940P)
(
ENST00000370225.4 )
ABCA4 p.Leu1940Pro (p.L1940P) ( ENST00000370225.4 ) - Associated Disease
- Stargardt disease
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) AND Stargardt disease
- ClinVar Allele ID
- 22950
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5597T>C
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.5819T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2020-01-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008370
- ClinVar Disease
- Stargardt disease
- Observed Origin Sample
- germline
- Pubmed
- 18285826
- Pubmed
- 11385708
Drugs