Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg2106Cys (p.R2106C)
(
ENST00000370225.4 )
ABCA4 p.Arg2106Cys (p.R2106C) ( ENST00000370225.4 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 105336
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.6316C>T
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.6094C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-12-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000408484
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
Drugs