W5* (p.Trp5Ter) variant of SDHD (O14521)
W5* (p.Trp5Ter) in SDHD (O14521) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W5* (p.Trp5Ter) variant details
- p.Trp5Ter
- rs104894310
- ClinGen CA016834
- ClinVar RCV001851719
- ClinVar RCV004018583
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)