D171G (p.Asp171Gly) variant of RUNX1 (Q01196)
D171G (p.Asp171Gly) 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 population frequency data and structural context.
D171G (p.Asp171Gly) variant details
- p.Asp171Gly
- NCI-TCGA Cosmic COSV5586
- cosmic curated COSV55867
- Ensembl rs1569061786
- Likely pathogenic
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- ClinVar: Likely pathogenic (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available