NM_001754.5(RUNX1):c.98-1G>A AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001270489.1
Allele description [Variation Report for NM_001754.5(RUNX1):c.98-1G>A]
NM_001754.5(RUNX1):c.98-1G>A
Condition(s)
- Name:
- Abnormal bleeding
- Identifiers:
- MedGen: C1458140; Human Phenotype Ontology: HP:0001892
- Name:
- Thrombocytopenia
- Identifiers:
- MONDO: MONDO:0002049; MeSH: D013921; MedGen: C0040034; Human Phenotype Ontology: HP:0001873
-
Taxonomy Links for Nucleotide (Select 296148725) (1)
Taxonomy
-
GSM1240628[Accession] (3)
GEO DataSets
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Last Updated: Aug 25, 2024