A15H (p.Ala15His) variant of SDHB (P21912)
A15H (p.Ala15His) in SDHB (P21912) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A15H (p.Ala15His) variant details
- p.Ala15His
- rs2101551748
- ClinGen CA2573130767
- ClinVar RCV001975219
- ClinVar RCV005421070
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: 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)