A36I (p.Ala36Ile) variant of SDHB (P21912)
A36I (p.Ala36Ile) 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; Gastrointestinal stromal tumor; Pheochr. The record also includes published literature and structural context.
A36I (p.Ala36Ile) variant details
- p.Ala36Ile
- rs2078100640
- ClinGen CA1139655478
- ClinVar RCV001224016
- ClinVar RCV002402697
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Pheochr
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- 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)