A27T (p.Ala27Thr) variant of SDHC (Q99643)
A27T (p.Ala27Thr) in SDHC (Q99643) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered. The record also includes structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10071
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered
- Missense
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- UniProt: Uncertain significance
- Structural context available