Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Ser1181ProfsTer10 (p.S1181Pfs*10)
(
ENST00000370225.4 )
ABCA4 p.Ser1181ProfsTer10 (p.S1181Pfs*10) ( ENST00000370225.4 ) - Associated Disease
- cone-rod dystrophy 3
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.3540_3555del (p.Ser1181fs) AND Cone-rod dystrophy 3
- ClinVar Allele ID
- 22949
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.3540_3555del
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.3317_3332del16
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008369
- ClinVar Disease
- Cone-rod dystrophy 3
- Observed Origin Sample
- germline
- Pubmed
- 18285826
Drugs