Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.His423Arg (p.H423R)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.His423Arg (p.H423R) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- ABCA4-related disorder
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) AND ABCA4-related disorder
- ClinVar Allele ID
- 104930
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.1268A>G
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.1268A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001096637
- ClinVar Disease
- ABCA4-related disorder
- Observed Origin Sample
- germline
Drugs