R19Q (p.Arg19Gln) variant of KIT (P10721)
R19Q (p.Arg19Gln) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor. The record also includes published literature and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- rs1577898667
- ClinGen CA2697546705
- ClinVar RCV003527203
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- 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)