Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg943Gln (p.R943Q)
(
ENST00000649773.1,
ENST00000370225.4 )
ABCA4 p.Arg943Gln (p.R943Q) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 22952
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.2606G>A
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.2828G>A
- Clinical Significance Description
- Established risk allele
- Clinical Significance Last Update
- 2022-06-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008375
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 10090887
- Pubmed
- 9054934
- Pubmed
- 11919200
- Pubmed
- 10880298
Drugs