Y45* (p.Tyr45Ter) variant of SDHB (P21912)
Y45* (p.Tyr45Ter) in SDHB (P21912) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y45* (p.Tyr45Ter) variant details
- p.Tyr45Ter
- rs1351034939
- ClinGen CA338228102
- ClinVar RCV001242731
- gnomAD rs1351034939
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)