Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Asn1868Ile (p.N1868I)
(
ENST00000370225.4 )
ABCA4 p.Arg18Trp (p.R18W) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Asn1868Ile (p.N1868I) ( ENST00000370225.4 )
ABCA4 p.Arg18Trp (p.R18W) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.[52C>T;5603A>T] AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 105279
- ClinVar Allele ID
- 22938
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5381A>T
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.52C>T
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.52C>T
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.5603A>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-01-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001353024
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- unknown
Drugs