Q47* (p.Gln47Ter) variant of SDHD (O14521)
Q47* (p.Gln47Ter) 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.
Q47* (p.Gln47Ter) variant details
- p.Gln47Ter
- rs1865655722
- ClinGen CA382617069
- cosmic curated COSV54778
- ClinVar RCV001565798
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)