NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly) AND Juvenile myelomonocytic leukemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003467561.1
Allele description [Variation Report for NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly)]
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly)
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
Assertion and evidence details
Last Updated: Dec 30, 2023