Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 c.5714+5G>A
(
ENST00000370225.4 )
ABCA4 c.5714+5G>A ( ENST00000370225.4 ) - Associated Disease
- retinitis pigmentosa 19
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.5714+5G>A AND Retinitis pigmentosa 19
- ClinVar Allele ID
- 105292
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.5714+5G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000210303
- ClinVar Disease
- Retinitis pigmentosa 19
- Observed Origin Sample
- germline
Drugs