Y107H (p.Tyr107His) variant of WAS (P42768)
Y107H (p.Tyr107His) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop. The record also includes published literature and structural context.
Y107H (p.Tyr107His) variant details
- p.Tyr107His
- rs2519280195
- ClinGen CA412867060
- ClinVar RCV003041446
- Pathogenic
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- ClinVar: Pathogenic (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)