G600E (p.Gly600Glu) variant of CPT2 (P23786)
G600E (p.Gly600Glu) in CPT2 (P23786) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Carnitine palmitoyltransferase II deficiency. The record also includes published literature and structural context.
G600E (p.Gly600Glu) variant details
- p.Gly600Glu
- rs2525596435
- ClinGen CA340397678
- ClinVar RCV002993689
- Likely pathogenic
- Carnitine palmitoyltransferase II deficiency
- Missense
- ClinVar: Likely pathogenic (Carnitine palmitoyltransferase II deficiency)
- EBI: Likely pathogenic (in CPT2D)
- UniProt: Likely pathogenic (in CPT2D)
- Structural context available
- Cited in: Carnitine Palmitoyltransferase II Deficiency. (PMID 20301431)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)