Annotation Detail
Information
- Associated Genes
- LPL
- Associated Variants
-
LPL S474*
LPL S474* - Associated Disease
- LPL-related disorder
- Source Database
- ClinVar
- Description
- NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND LPL-related disorder
- ClinVar Allele ID
- 16573
- ClinVar RefSeq Alternation Syntax
- NM_000237.3:c.1421C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-06-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974788
- ClinVar Disease
- LPL-related disorder
- Observed Origin Sample
- germline
Drugs