R19* (p.Arg19Ter) variant of MMAB (Q96EY8)
R19* (p.Arg19Ter) 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.
R19* (p.Arg19Ter) variant details
- p.Arg19Ter
- rs2548614273
- ClinGen CA2739277307
- ClinVar RCV003608641
- Pathogenic
- Stop Gained
- EBI: Pathogenic (in dbSNP:rs36013132)
- UniProt: Pathogenic (in dbSNP:rs36013132)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)