Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Gly1961Glu (p.G1961E)
(
ENST00000370225.4 )
ABCA4 p.Gly1961Glu (p.G1961E) ( ENST00000370225.4 ) - Associated Disease
- cone-rod dystrophy 3
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) AND Cone-rod dystrophy 3
- ClinVar Allele ID
- 22927
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5660G>A
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.5882G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-04-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008341
- ClinVar Disease
- Cone-rod dystrophy 3
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 18285826
- Pubmed
- 9973280
- Pubmed
- 27535533
- Pubmed
- 9054934
Drugs