S67R (p.Ser67Arg) variant of RUNX1 (Q01196)
S67R (p.Ser67Arg) 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 hematological cancer predisposition syndrome ass. The record also includes structural context.
S67R (p.Ser67Arg) variant details
- p.Ser67Arg
- cosmic curated COSV10027
- Ensembl rs2146409515
- Likely pathogenic
- Hereditary thrombocytopenia and hematological cancer predisposition syndrome ass
- Missense
- ClinVar: Likely pathogenic (Hereditary thrombocytopenia and hematological cancer predisposit)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available