R7G (p.Arg7Gly) variant of SDHC (Q99643)
R7G (p.Arg7Gly) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor. The record also includes structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- TOPMed rs1670521233
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor
- Missense
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available