Annotation Detail
Information
- Associated Genes
- ABCA1
- Associated Variants
-
ABCA1 p.Arg230Cys (p.R230C)
(
ENST00000374736.8,
ENST00000423487.6,
ENST00000678995.1 )
ABCA1 p.Arg230Cys (p.R230C) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 ) - Source Database
- ClinVar
- Description
- NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) AND Cardiovascular phenotype
- ClinVar Allele ID
- 316110
- ClinVar RefSeq Alternation Syntax
- NM_005502.4:c.688C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-03-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002374604
- Observed Origin Sample
- germline
Drugs