R13* (p.Arg13Ter) variant of WAS (P42768)
R13* (p.Arg13Ter) in WAS (P42768) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R13* (p.Arg13Ter) variant details
- p.Arg13Ter
- rs193922415
- ClinGen CA342897
- ClinVar RCV000030595
- ClinVar RCV001230612
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)