W22* (p.Trp22Ter) variant of SDHA (P31040)
W22* (p.Trp22Ter) in SDHA (P31040) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W22* (p.Trp22Ter) variant details
- p.Trp22Ter
- rs2126539382
- ClinGen CA359008061
- ClinVar RCV001946937
- Ensembl rs2126539382
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (PMID 24893135)