Y35* (p.Tyr35Ter) variant of HSD17B3 (P37058)
Y35* (p.Tyr35Ter) in HSD17B3 (P37058) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y35* (p.Tyr35Ter) variant details
- p.Tyr35Ter
- rs2490210465
- ClinGen CA374126560
- ClinVar RCV003724535
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available