Annotation Detail
Information
- Associated Genes
- ABCA1 LOC105376196 LOC130002275
- Associated Variants
-
ABCA1 c.-327C>T
ABCA1 c.-327C>T - Associated Disease
- Familial High Density Lipoprotein Deficiency
- Source Database
- ClinVar
- Description
- NM_005502.3(ABCA1):c.-327C>T AND Familial High Density Lipoprotein Deficiency
- ClinVar Allele ID
- 316143
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000332240
- ClinVar Disease
- Familial High Density Lipoprotein Deficiency
- Observed Origin Sample
- germline
Drugs