NM_001754.5(RUNX1):c.899C>T (p.Thr300Met) AND Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000461356.12
Allele description [Variation Report for NM_001754.5(RUNX1):c.899C>T (p.Thr300Met)]
NM_001754.5(RUNX1):c.899C>T (p.Thr300Met)
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
-
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Pleioluma macrocarpa]gi|530444736|gb|AGT29141.1|Protein
-
Sarcaulus brasiliensis voucher Paniagua_4852 small subunit ribosomal RNA gene, p...
Sarcaulus brasiliensis voucher Paniagua_4852 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|2020517420|gb|MW843562.1|Nucleotide
-
Chromosome neighbors for GEO Profiles (Select 120939784) (20)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 45795152) (20)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 77976172) (20)
GEO Profiles
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024