Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg212Cys (p.R212C)
(
ENST00000649773.1,
ENST00000370225.4 )
ABCA4 p.Arg212Cys (p.R212C) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 22937
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.634C>T
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.634C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-02-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008355
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 9503029
- Pubmed
- 11385708
Drugs