Q52H (p.Gln52His) variant of WAS (P42768)
Q52H (p.Gln52His) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd. The record also includes published literature and structural context.
Q52H (p.Gln52His) variant details
- p.Gln52His
- rs2519278363
- ClinGen CA412866170
- ClinVar RCV003783759
- UniProt VAR 012710
- Uncertain significance
- Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd
- Missense
- ClinVar: Uncertain significance (Thrombocytopenia 1; X-linked severe congenital neutropenia; Wisk)
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Structural context available
- Cited in: Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations. (PMID 11793485)
- Cited in: WAS-Related Disorders. (PMID 20301357)