Y40* (p.Tyr40Ter) variant of ABCG8 (Q9H221)
Y40* (p.Tyr40Ter) in ABCG8 (Q9H221) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y40* (p.Tyr40Ter) variant details
- p.Tyr40Ter
- rs1000291485
- Ensembl rs1000291485
- ClinGen CA346663238
- ClinVar RCV000594922
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)