D38E (p.Asp38Glu) variant of SDHA (P31040)
D38E (p.Asp38Glu) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli. The record also includes published literature and structural context.
D38E (p.Asp38Glu) variant details
- p.Asp38Glu
- rs1061519
- ClinGen CA359008185
- ClinVar RCV003803261
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Variant of uncertain significance (in dbSNP:rs34635677)
- UniProt: Uncertain significance (in dbSNP:rs34635677)
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (PMID 24893135)