Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Gln294Ter (p.Q294*)
(
ENST00000649773.1,
ENST00000370225.4 )
ABCA4 p.Gln294Ter (p.Q294*) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter) AND not provided
- ClinVar Allele ID
- 195881
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.880C>T
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.880C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-09-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000180146
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs