D77G (p.Asp77Gly) variant of WAS (P42768)
D77G (p.Asp77Gly) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop. The record also includes published literature and structural context.
D77G (p.Asp77Gly) variant details
- p.Asp77Gly
- rs2519278581
- ClinGen CA412866557
- ClinVar RCV003402525
- ClinVar RCV003778227
- Conflicting interpretations
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)