NM_001754.5(RUNX1):c.367G>C (p.Asp123His) AND Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 29, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000795718.6
Allele description [Variation Report for NM_001754.5(RUNX1):c.367G>C (p.Asp123His)]
NM_001754.5(RUNX1):c.367G>C (p.Asp123His)
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
-
Homo sapiens TEA domain transcription factor 4 (TEAD4), transcript variant 2, mR...
Homo sapiens TEA domain transcription factor 4 (TEAD4), transcript variant 2, mRNAgi|1677530129|ref|NM_201441.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024