NM_001754.5(RUNX1):c.209A>C (p.Lys70Thr) AND Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001936461.5
Allele description [Variation Report for NM_001754.5(RUNX1):c.209A>C (p.Lys70Thr)]
NM_001754.5(RUNX1):c.209A>C (p.Lys70Thr)
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
-
Fundicoccus fermenti strain:F-1
Fundicoccus fermenti strain:F-1Novel indigo-reducing bacterial speciesBioProject
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LAMA2 laminin subunit alpha 2 [Homo sapiens]
LAMA2 laminin subunit alpha 2 [Homo sapiens]Gene ID:3908Gene
-
Gene Links for GEO Profiles (Select 95963931) (1)
Gene
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C6orf58 chromosome 6 open reading frame 58 [Homo sapiens]
C6orf58 chromosome 6 open reading frame 58 [Homo sapiens]Gene ID:352999Gene
-
Gene Links for GEO Profiles (Select 95985433) (1)
Gene
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Last Updated: Mar 5, 2024