C98R (p.Cys98Arg) variant of SDHB (P21912)
C98R (p.Cys98Arg) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inherited phaeochromocytoma and paraganglioma excluding NF1; Pheochromocytoma; G. The record also includes published literature and structural context.
C98R (p.Cys98Arg) variant details
- p.Cys98Arg
- rs2525020920
- ClinGen CA338275224
- ClinVar RCV003472640
- ClinVar RCV003779111
- Pathogenic/Likely pathogenic
- Inherited phaeochromocytoma and paraganglioma excluding NF1; Pheochromocytoma; G
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Inherited phaeochromocytoma and paraganglioma excluding NF1; Phe)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)