T18A (p.Thr18Ala) variant of RUNX1 (Q01196)
T18A (p.Thr18Ala) 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.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- rs2517488127
- ClinGen CA410204209
- ClinVar RCV003024386
- ClinVar RCV004736245
- 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)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)