Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg1300Gln (p.R1300Q)
(
ENST00000370225.4 )
ABCA4 p.Arg1300Gln (p.R1300Q) ( ENST00000370225.4 ) - Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) AND Macular dystrophy
- ClinVar Allele ID
- 105135
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.3677G>A
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.3899G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2015-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000505027
- Observed Origin Sample
- unknown
Drugs