Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg2149Ter (p.R2149*)
(
ENST00000370225.4 )
ABCA4 p.Arg2149Ter (p.R2149*) ( ENST00000370225.4 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 105349
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.6223C>T
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.6445C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000132593
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- not provided
Drugs