NM_000546.6(TP53):c.818G>T (p.Arg273Leu) AND Medulloblastoma
- 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:
- RCV000425890.1
Allele description
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
Condition(s)
- Name:
- Medulloblastoma (MDB)
- Synonyms:
- Medulloblastoma, somatic; MEDULLOBLASTOMA PREDISPOSITION SYNDROME
- Identifiers:
- MONDO: MONDO:0007959; MeSH: D008527; MedGen: C0025149; Orphanet: 616; OMIM: 155255; Human Phenotype Ontology: HP:0002885
Assertion and evidence details
Last Updated: Aug 13, 2023