Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Leu1970Phe (p.L1970F)
(
ENST00000370225.4 )
ABCA4 p.Leu1970Phe (p.L1970F) ( ENST00000370225.4 ) - Associated Disease
- Retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) AND Retinal dystrophy
- ClinVar Allele ID
- 22931
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.5908C>T
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5686C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-08-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001073250
- ClinVar Disease
- Retinal dystrophy
- Observed Origin Sample
- germline
Drugs