Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Glu1399Lys (p.E1399K)
(
ENST00000370225.4 )
ABCA4 p.Glu1399Lys (p.E1399K) ( ENST00000370225.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) AND not provided
- ClinVar Allele ID
- 105145
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.4195G>A
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.3973G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-26
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000085609
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
Drugs