Annotation Detail
Information
- Associated Genes
- ABCA4 LOC126805793
- Associated Variants
-
ABCA4 p.Ile1562Thr (p.I1562T)
(
ENST00000370225.4 )
ABCA4 p.Ile1562Thr (p.I1562T) ( ENST00000370225.4 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 105200
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.4463T>C
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.4685T>C
- 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/RCV000408556
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
Drugs