I44T (p.Ile44Thr) variant of SDHB (P21912)
I44T (p.Ile44Thr) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st. The record also includes published literature and structural context.
I44T (p.Ile44Thr) variant details
- p.Ile44Thr
- rs2525059821
- ClinGen CA338228137
- ClinVar RCV003176555
- ClinVar RCV006561126
- Conflicting interpretations
- Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st
- Missense
- ClinVar: Conflicting classifications of pathogenicity (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)