Annotation Detail
Information
- Associated Genes
- APOA5
- Associated Variants
-
APOA5 c.*158C>T
(
ENST00000542499.5,
ENST00000227665.9 )
APOA5 c.*158C>T ( ENST00000227665.9, ENST00000542499.5 ) - Associated Disease
- Hypertriglyceridemia 1
- Source Database
- ClinVar
- Description
- NM_001371904.1(APOA5):c.*158C>T AND Hypertriglyceridemia 1
- ClinVar Allele ID
- 132639
- ClinVar RefSeq Alternation Syntax
- NM_052968.5:c.*158C>T
- ClinVar RefSeq Alternation Syntax
- NM_001371904.1:c.*158C>T
- ClinVar RefSeq Alternation Syntax
- NM_001166598.2:c.*158C>T
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2014-01-02
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000114996
- ClinVar Disease
- Hypertriglyceridemia 1
- Observed Origin Sample
- germline
- Pubmed
- 11588264
- Pubmed
- 24387992
- Pubmed
- 12417524
Drugs