Q68* (p.Gln68Ter) variant of MMADHC (Q9H3L0)
Q68* (p.Gln68Ter) in MMADHC (Q9H3L0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q68* (p.Gln68Ter) variant details
- p.Gln68Ter
- rs2467645024
- ClinGen CA348870854
- ClinVar RCV002716105
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)