NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 28, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000491130.3
Allele description [Variation Report for NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)]
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Assertion and evidence details
Last Updated: Jun 2, 2024