C11* (p.Cys11Ter) variant of SDHD (O14521)
C11* (p.Cys11Ter) 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.
C11* (p.Cys11Ter) variant details
- p.Cys11Ter
- rs104894309
- ClinGen CA016967
- ClinVar RCV000007324
- ClinVar RCV000221327
- 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)