Y29* (p.Tyr29Ter) variant of MMAB (Q96EY8)
Y29* (p.Tyr29Ter) 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.
Y29* (p.Tyr29Ter) variant details
- p.Tyr29Ter
- rs2136213423
- ClinGen CA386641296
- ClinVar RCV001527444
- Ensembl rs2136213423
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)