Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg1097Ter (p.R1097*)
(
ENST00000370225.4 )
ABCA4 p.Gly863Ala (p.G863A) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg1097Ter (p.R1097*) ( ENST00000370225.4 )
ABCA4 p.Gly863Ala (p.G863A) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.2(ABCA4):c.[2588G>C;3289A>T] AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 237681
- ClinVar Allele ID
- 22918
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.2588G>C
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.2366G>C
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.3289A>T
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.3067A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-01-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000408579
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
Drugs