C42* (p.Cys42Ter) variant of SH2D1A (SH2 domain-containing protein 1A)
C42* (p.Cys42Ter) in SH2D1A (SH2 domain-containing protein 1A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XLP1. The record also includes published literature and structural context.
C42* (p.Cys42Ter) variant details
- p.Cys42Ter
- rs2522797441
- ClinGen CA414122441
- ClinVar RCV003510656
- Pathogenic
- in XLP1
- Stop Gained
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)