G208R (p.Gly208Arg) variant of SDHB (P21912)
G208R (p.Gly208Arg) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st. The record also includes published literature and structural context.
G208R (p.Gly208Arg) variant details
- p.Gly208Arg
- rs2525008725
- ClinGen CA338270963
- ClinVar RCV002366561
- ClinVar RCV005215841
- Likely pathogenic
- Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st
- Missense
- ClinVar: Likely pathogenic (Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gas)
- EBI: Likely pathogenic
- UniProt: Likely 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)