NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) AND Astrocytoma
- 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:
- RCV000424761.1
Allele description [Variation Report for NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)]
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)
Condition(s)
- Name:
- Astrocytoma
- Synonyms:
- Astrocytoma (excluding glioblastoma)
- Identifiers:
- MONDO: MONDO:0019781; MeSH: D001254; MedGen: C0004114; Human Phenotype Ontology: HP:0009592
Assertion and evidence details
Last Updated: Feb 13, 2023