Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Ile156Val (p.I156V)
(
ENST00000649773.1,
ENST00000370225.4 )
ABCA4 p.Ile156Val (p.I156V) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 105199
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.466A>G
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.466A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2015-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000504910
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- unknown
Drugs