G45E (p.Gly45Glu) variant of SDHD (O14521)
G45E (p.Gly45Glu) in SDHD (O14521) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Carney-Stratakis syndrome; Cowden syndrome 3. The record also includes structural context.
G45E (p.Gly45Glu) variant details
- p.Gly45Glu
- NCI-TCGA Cosmic COSV5477
- cosmic curated COSV54777
- Uncertain significance
- Pheochromocytoma; Carney-Stratakis syndrome; Cowden syndrome 3
- Missense
- ClinVar: Uncertain significance (Pheochromocytoma; Carney-Stratakis syndrome; Cowden syndrome 3)
- UniProt: Uncertain significance
- Structural context available