Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Gly863Ala (p.G863A)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.Gly863Ala (p.G863A) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- cone-rod dystrophy 3
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) AND Cone-rod dystrophy 3
- ClinVar Allele ID
- 22918
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.2588G>C
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.2366G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-10-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008329
- ClinVar Disease
- Cone-rod dystrophy 3
- Observed Origin Sample
- germline
- Pubmed
- 15516930
- Pubmed
- 16400609
- Pubmed
- 18285826
- Pubmed
- 10090887
- Pubmed
- 11973624
- Pubmed
- 11919200
- Pubmed
- 10880298
Drugs