E113* (p.Glu113Ter) variant of ADA (Adenosine deaminase)
E113* (p.Glu113Ter) in ADA (Adenosine deaminase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E113* (p.Glu113Ter) variant details
- p.Glu113Ter
- rs1275500780
- ClinGen CA409121317
- ClinVar RCV001946542
- TOPMed rs1275500780
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)