R135T (p.Arg135Thr) variant of RUNX1 (Q01196)
R135T (p.Arg135Thr) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The record also includes structural context.
R135T (p.Arg135Thr) variant details
- p.Arg135Thr
- NCI-TCGA Cosmic COSV5586
- TOPMed rs1057519750
- Likely pathogenic
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- ClinVar: Likely pathogenic (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available