NM_001754.5(RUNX1):c.165dup (p.Leu56fs) AND Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003448392.2
Allele description [Variation Report for NM_001754.5(RUNX1):c.165dup (p.Leu56fs)]
NM_001754.5(RUNX1):c.165dup (p.Leu56fs)
Condition(s)
- Name:
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Identifiers:
- MONDO: MONDO:0011071; MedGen: CN281654
-
UGP2 [Microcaecilia unicolor]
UGP2 [Microcaecilia unicolor]Gene ID:115465584Gene
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Last Updated: Jul 29, 2024