Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Gly1961Glu (p.G1961E)
(
ENST00000370225.4 )
ABCA4 p.His1838Asp (p.H1838D) ( ENST00000370225.4 )
ABCA4 p.Gly1961Glu (p.G1961E) ( ENST00000370225.4 )
ABCA4 p.His1838Asp (p.H1838D) ( ENST00000370225.4 ) - Associated Disease
- Stargardt disease
- Source Database
- ClinVar
- Description
- NM_000350.2(ABCA4):c.[5512C>G;5882G>A] AND Stargardt disease
- ClinVar Allele ID
- 105269
- ClinVar Allele ID
- 22927
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.5512C>G
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5660G>A
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.5290C>G
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.5882G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-12-13
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000786006
- ClinVar Disease
- Stargardt disease
- Observed Origin Sample
- inherited
Drugs