NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND Neuroblastoma
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 31, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000422541.2
Allele description [Variation Report for NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)]
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)
Condition(s)
- Name:
- Neuroblastoma (NB)
- Identifiers:
- MONDO: MONDO:0005072; MeSH: D009447; MedGen: C0027819; Orphanet: 635; Human Phenotype Ontology: HP:0003006
Assertion and evidence details
Last Updated: Apr 15, 2024