S30* (p.Ser30Ter) variant of SDHAF2 (Q9NX18)
S30* (p.Ser30Ter) in SDHAF2 (Q9NX18) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
S30* (p.Ser30Ter) variant details
- p.Ser30Ter
- rs2540124080
- ClinGen CA380682984
- ClinVar RCV002846684
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine… (PMID 20664475)