NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala) AND Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002537734.2
Allele description [Variation Report for NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala)]
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala)
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
-
DEG16 Trypsin family protein [Arabidopsis thaliana]
DEG16 Trypsin family protein [Arabidopsis thaliana]Gene ID:835564Gene
-
At.55553 AND (alive[prop]) (1)
Gene
-
maturin [Rattus norvegicus]
maturin [Rattus norvegicus]gi|56090335|ref|NP_001007646.1|Protein
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Last Updated: Sep 29, 2024