R41* (p.Arg41Ter) variant of WAS (P42768)
R41* (p.Arg41Ter) 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.
R41* (p.Arg41Ter) variant details
- p.Arg41Ter
- rs11545907
- ClinGen CA329099985
- ClinVar RCV001216267
- ClinVar RCV003908449
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)