NM_000546.6(TP53):c.646G>A (p.Val216Met) AND Squamous cell lung carcinoma
- 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:
- RCV000428263.4
Allele description [Variation Report for NM_000546.6(TP53):c.646G>A (p.Val216Met)]
NM_000546.6(TP53):c.646G>A (p.Val216Met)
Condition(s)
- Name:
- Squamous cell lung carcinoma
- Synonyms:
- Lung cancer, squamous cell, somatic; Squamous cell carcinoma of lung
- Identifiers:
- MONDO: MONDO:0005097; MedGen: C0149782; Human Phenotype Ontology: HP:0030359
-
RecName: Full=Integral membrane protein 2A; AltName: Full=Protein E25
RecName: Full=Integral membrane protein 2A; AltName: Full=Protein E25gi|6016399|sp|O43736.2|ITM2A_HUMANProtein
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Last Updated: Aug 11, 2024