C119* (p.Cys119Ter) variant of MMAB (Q96EY8)
C119* (p.Cys119Ter) in MMAB (Q96EY8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
C119* (p.Cys119Ter) variant details
- p.Cys119Ter
- rs2548605435
- ClinGen CA386637748
- ClinVar RCV003607680
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)