D224G (p.Asp224Gly) variant of WAS (P42768)
D224G (p.Asp224Gly) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; Thrombocytopen. The record also includes published literature and structural context.
D224G (p.Asp224Gly) variant details
- p.Asp224Gly
- rs2519283290
- ClinGen CA412870771
- ClinVar RCV003152995
- ClinVar RCV006561106
- Pathogenic/Likely pathogenic
- Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; Thrombocytopen
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)