N21I (p.Asn21Ile) variant of WAS (P42768)
N21I (p.Asn21Ile) 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; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop. The record also includes published literature and structural context.
N21I (p.Asn21Ile) variant details
- p.Asn21Ile
- rs2519277529
- ClinGen CA412865463
- ClinVar RCV003808494
- Uncertain significance
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- ClinVar: Uncertain significance (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)