Annotation Detail
Information
- Associated Genes
- ABCA1
- Associated Variants
-
ABCA1 p.Arg219Lys (p.R219K)
(
ENST00000374736.8,
ENST00000423487.6,
ENST00000678995.1 )
ABCA1 p.Arg219Lys (p.R219K) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 ) - Associated Disease
- Hypoalphalipoproteinemia, primary, 1
- Source Database
- ClinVar
- Description
- NM_005502.4(ABCA1):c.656G>A (p.Arg219Lys) AND Hypoalphalipoproteinemia, primary, 1
- ClinVar Allele ID
- 24545
- ClinVar RefSeq Alternation Syntax
- NM_005502.4:c.656G>A
- 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/RCV000310562
- ClinVar Disease
- Hypoalphalipoproteinemia, primary, 1
- Observed Origin Sample
- germline
Drugs