Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Glu616AspfsTer33 (p.E616Dfs*33)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.Glu616AspfsTer33 (p.E616Dfs*33) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- retinitis pigmentosa 19
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.1848del (p.Glu616fs) AND Retinitis pigmentosa 19
- ClinVar Allele ID
- 22928
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.1847delA
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.1848del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008342
- ClinVar Disease
- Retinitis pigmentosa 19
- Observed Origin Sample
- germline
- Pubmed
- 9425888
- Pubmed
- 9070931
Drugs