Q68* (p.Gln68Ter) variant of MMACHC (Q9Y4U1)
Q68* (p.Gln68Ter) 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.
Q68* (p.Gln68Ter) variant details
- p.Gln68Ter
- rs1570829862
- ClinGen CA340131805
- ClinVar RCV001004151
- Ensembl rs1570829862
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)