Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg2030Gln (p.R2030Q)
(
ENST00000370225.4 )
ABCA4 p.? (p.?) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg2030Gln (p.R2030Q) ( ENST00000370225.4 )
ABCA4 p.? (p.?) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.2(ABCA4):c.[1A>G;6089G>A] AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 105317
- ClinVar Allele ID
- 104999
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.6089G>A
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5867G>A
- 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/RCV000408532
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
Drugs