Annotation Detail

Information
Associated Genes
CETP
Associated Variants
CETP c.118+279G>A ( ENST00000200676.8, ENST00000379780.6, ENST00000566128.1 )
CETP c.118+279G>A ( ENST00000200676.8, ENST00000379780.6, ENST00000566128.1 )
Associated Disease
Coronary artery disorder
Source Database
ClinVar
Description
NM_000078.3(CETP):c.118+279G>A AND Coronary artery disorder
ClinVar Allele ID
1228884
ClinVar RefSeq Alternation Syntax
NM_001286085.2:c.118+279G>A
ClinVar RefSeq Alternation Syntax
NM_000078.3:c.118+279G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2022-05-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002243347
ClinVar Disease
Coronary artery disorder
Observed Origin Sample
germline
Drugs