Annotation Detail
Information
- Associated Genes
- ABCA1
- Associated Variants
-
ABCA1 p.Ile883Met (p.I883M)
(
ENST00000374736.8,
ENST00000678995.1 )
ABCA1 p.Ile883Met (p.I883M) ( ENST00000374736.8, ENST00000678995.1 ) - Associated Disease
- Tangier disease
- Source Database
- ClinVar
- Description
- NM_005502.4(ABCA1):c.2649A>G (p.Ile883Met) AND Tangier disease
- ClinVar Allele ID
- 315998
- ClinVar RefSeq Alternation Syntax
- NM_005502.4:c.2649A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000310886
- ClinVar Disease
- Tangier disease
- Observed Origin Sample
- germline
Drugs