S869R (p.Ser869Arg) variant of SETBP1 (SET-binding protein)
S869R (p.Ser869Arg) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Schinzel-Giedion syndrome; SETBP1-related disorder. The record also includes published literature.
S869R (p.Ser869Arg) variant details
- p.Ser869Arg
- rs74499808
- ClinGen CA402321814
- ClinVar RCV003315119
- ClinVar RCV004701034
- Pathogenic/Likely pathogenic
- Schinzel-Giedion syndrome; SETBP1-related disorder
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Schinzel-Giedion syndrome; SETBP1-related disorder)
- EBI: Pathogenic (in myeloid malignancies)
- UniProt: Pathogenic (in myeloid malignancies)
- Cited in: SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy… (PMID 23628959)
- Cited in: Schinzel-Giedion Syndrome. (PMID 38452171)