Annotation Detail
Information
- Associated Genes
- LPL
- Associated Variants
-
LPL S474*
LPL S474* - Associated Disease
- Hyperlipidemia, familial combined, LPL related Hyperlipoproteinemia, type I
- Source Database
- ClinVar
- Description
- NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND multiple conditions
- ClinVar Allele ID
- 16573
- ClinVar RefSeq Alternation Syntax
- NM_000237.3:c.1421C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-05-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002504735
- ClinVar Disease
- Hyperlipoproteinemia, type I
- ClinVar Disease
- Hyperlipidemia, familial combined, LPL related
- Observed Origin Sample
- unknown
Drugs