S17* (p.Ser17Ter) variant of ANGPTL3 (Angiopoietin-related protein 3)
S17* (p.Ser17Ter) in ANGPTL3 (Angiopoietin-related protein 3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
S17* (p.Ser17Ter) variant details
- p.Ser17Ter
- rs267606655
- ClinGen CA117429
- ClinVar RCV000005684
- Ensembl rs267606655
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. (PMID 20942659)
- Cited in: Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization. (PMID 22659251)