Q24E (p.Gln24Glu) variant of SDHB (P21912)
Q24E (p.Gln24Glu) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheochromocytoma/para. The record also includes published literature and structural context.
Q24E (p.Gln24Glu) variant details
- p.Gln24Glu
- rs1570963430
- ClinGen CA338230593
- ClinVar RCV004508373
- ClinVar RCV006564832
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheochromocytoma/para
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)