W43* (p.Trp43Ter) variant of SDHD (O14521)
W43* (p.Trp43Ter) 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.
W43* (p.Trp43Ter) variant details
- p.Trp43Ter
- rs104894308
- ClinGen CA016785
- ClinVar RCV000007322
- ClinVar RCV000222413
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. (PMID 12111639)
- Cited in: Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. (PMID 18211978)