Annotation Detail
Information
- Associated Genes
- APOA5 LOC108491825
- Associated Variants
-
APOA5 p.Ser19Trp (p.S19W)
(
ENST00000542499.5,
ENST00000227665.9,
ENST00000673688.1 )
APOA5 p.Ser19Trp (p.S19W) ( ENST00000227665.9, ENST00000542499.5, ENST00000673688.1 ) - Associated Disease
- Hypertriglyceridemia 1 Familial type 5 hyperlipoproteinemia
- Source Database
- ClinVar
- Description
- NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp) AND multiple conditions
- ClinVar Allele ID
- 19442
- ClinVar RefSeq Alternation Syntax
- NM_001371904.1:c.56C>G
- ClinVar RefSeq Alternation Syntax
- NM_052968.5:c.56C>G
- ClinVar RefSeq Alternation Syntax
- NM_001166598.2:c.56C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-04-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002504745
- ClinVar Disease
- Hypertriglyceridemia 1
- ClinVar Disease
- Familial type 5 hyperlipoproteinemia
- Observed Origin Sample
- unknown
Drugs