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
- cone-rod dystrophy 3
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) AND Cone-rod dystrophy 3
- 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
- Likely pathogenic
- Clinical Significance Last Update
- 2017-09-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000179293
- ClinVar Disease
- Cone-rod dystrophy 3
- Observed Origin Sample
- germline
Drugs