E13G (p.Glu13Gly) variant of MAX (Protein max)
E13G (p.Glu13Gly) in MAX (Protein max) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy. The record also includes published literature and structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- rs2504510560
- ClinGen CA390038823
- ClinVar RCV002829353
- ClinVar RCV005592510
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)