C17* (p.Cys17Ter) variant of MMACHC (Q9Y4U1)
C17* (p.Cys17Ter) in MMACHC (Q9Y4U1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
C17* (p.Cys17Ter) variant details
- p.Cys17Ter
- rs2522798223
- ClinGen CA340128613
- ClinVar RCV003461865
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)