Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg2107Cys (p.R2107C)
(
ENST00000370225.4 )
ABCA4 p.Arg2107Cys (p.R2107C) ( ENST00000370225.4 ) - Associated Disease
- Stargardt disease
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys) AND Stargardt disease
- ClinVar Allele ID
- 623815
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.6319C>T
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.6097C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000787520
- ClinVar Disease
- Stargardt disease
- Observed Origin Sample
- unknown
Drugs