Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Val931Met (p.V931M)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.Val931Met (p.V931M) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 22919
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.2791G>A
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.2569G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-02-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008330
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
- Pubmed
- 9054934
Drugs