Annotation Detail
Information
- Associated Genes
- ABCA1
- Associated Variants
-
ABCA1 p.Lys1587Arg (p.K1587R)
(
ENST00000374736.8,
ENST00000678995.1 )
ABCA1 p.Lys1587Arg (p.K1587R) ( ENST00000374736.8, ENST00000678995.1 ) - Associated Disease
- Hypoalphalipoproteinemia, primary, 1
- Source Database
- ClinVar
- Description
- NM_005502.4(ABCA1):c.4760A>G (p.Lys1587Arg) AND Hypoalphalipoproteinemia, primary, 1
- ClinVar Allele ID
- 315817
- ClinVar RefSeq Alternation Syntax
- NM_005502.4:c.4760A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000312801
- ClinVar Disease
- Hypoalphalipoproteinemia, primary, 1
- Observed Origin Sample
- germline
Drugs