S21R (p.Ser21Arg) variant of RUNX1 (Q01196)
S21R (p.Ser21Arg) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The record also includes published literature and structural context.
S21R (p.Ser21Arg) variant details
- p.Ser21Arg
- rs147889692
- ClinGen CA410204142
- ClinVar RCV003823654
- ClinVar RCV005001448
- Uncertain significance
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. (PMID 33661592)