Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Phe873SerfsTer11 (p.F873Sfs*11)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.Phe873SerfsTer11 (p.F873Sfs*11) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- cone-rod dystrophy 3
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs) AND Cone-rod dystrophy 3
- ClinVar Allele ID
- 22941
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.2394_2395delCT
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.2616_2617del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008360
- ClinVar Disease
- Cone-rod dystrophy 3
- Observed Origin Sample
- germline
- Pubmed
- 12515255
Drugs