NM_005188.4(CBL):c.434C>G (p.Ser145Cys) AND Juvenile myelomonocytic leukemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003460334.1
Allele description [Variation Report for NM_005188.4(CBL):c.434C>G (p.Ser145Cys)]
NM_005188.4(CBL):c.434C>G (p.Ser145Cys)
Condition(s)
- Name:
- Juvenile myelomonocytic leukemia (JMML)
- Synonyms:
- LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
- Identifiers:
- MONDO: MONDO:0011908; MedGen: C0349639; Orphanet: 86834; OMIM: 607785; Human Phenotype Ontology: HP:0012209
-
ETNK2 ethanolamine kinase 2 [Homo sapiens]
ETNK2 ethanolamine kinase 2 [Homo sapiens]Gene ID:55224Gene
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023