Y24* (p.Tyr24Ter) variant of MMACHC (Q9Y4U1)
Y24* (p.Tyr24Ter) 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.
Y24* (p.Tyr24Ter) variant details
- p.Tyr24Ter
- rs755881820
- ClinGen CA340128765
- ClinVar RCV000669100
- ExAC rs755881820
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)