NM_001754.5(RUNX1):c.144C>T (p.Ser48=) AND Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000229084.20
Allele description [Variation Report for NM_001754.5(RUNX1):c.144C>T (p.Ser48=)]
NM_001754.5(RUNX1):c.144C>T (p.Ser48=)
Condition(s)
- Name:
- Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
- Synonyms:
- Platelet disorder, Aspirin-like; Familial platelet disorder with associated myeloid malignancy; Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100083; MeSH: C563324; MedGen: C1832388; Orphanet: 71290; OMIM: 601399
Assertion and evidence details
Last Updated: Oct 20, 2024