NM_000546.6(TP53):c.645T>G (p.Ser215Arg) AND Carcinoma of esophagus
- 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:
- RCV000439391.4
Allele description [Variation Report for NM_000546.6(TP53):c.645T>G (p.Ser215Arg)]
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)
Condition(s)
- Name:
- Carcinoma of esophagus
- Synonyms:
- Oesophageal carcinoma; Esophageal carcinoma
- Identifiers:
- MONDO: MONDO:0019086; MedGen: C0152018; Orphanet: 70482; Human Phenotype Ontology: HP:0011459
-
RecName: Full=43 kDa receptor-associated protein of the synapse; Short=RAPsyn; A...
RecName: Full=43 kDa receptor-associated protein of the synapse; Short=RAPsyn; AltName: Full=43 kDa postsynaptic protein; AltName: Full=Acetylcholine receptor-associated 43 kDa protein; AltName: Full=RING finger protein 205gi|145559521|sp|Q13702.4|RAPSN_HUMAProtein
-
Cyclopelta parva mitochondrion, complete genome
Cyclopelta parva mitochondrion, complete genomegi|1377537992|gb|KY069962.1|Nucleotide
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Last Updated: Jul 15, 2024