Annotation Detail
Information
- Associated Genes
- APOA5 LOC108491825
- Associated Variants
-
APOA5 p.Ser19Leu (p.S19L)
(
ENST00000673688.1,
ENST00000227665.9,
ENST00000542499.5 )
APOA5 p.Ser19Leu (p.S19L) ( ENST00000227665.9, ENST00000542499.5, ENST00000673688.1 ) - Source Database
- ClinVar
- Description
- NM_001371904.1(APOA5):c.56C>T (p.Ser19Leu) AND Cardiovascular phenotype
- ClinVar Allele ID
- 1800185
- ClinVar RefSeq Alternation Syntax
- NM_001371904.1:c.56C>T
- ClinVar RefSeq Alternation Syntax
- NM_001166598.2:c.56C>T
- ClinVar RefSeq Alternation Syntax
- NM_052968.5:c.56C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-03-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002347556
- Observed Origin Sample
- germline
Drugs