NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND Neoplasm of the large intestine
- 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:
- RCV000444717.3
Allele description [Variation Report for NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)]
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
Condition(s)
- Name:
- Neoplasm of the large intestine
- Synonyms:
- Colorectal Neoplasms; Colorectal neoplasm
- Identifiers:
- MONDO: MONDO:0005335; MeSH: D015179; MedGen: C0009404; Human Phenotype Ontology: HP:0100834
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hemojuvelin isoform c [Homo sapiens]
hemojuvelin isoform c [Homo sapiens]gi|42544157|ref|NP_973733.1|Protein
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EIF3B eukaryotic translation initiation factor 3 subunit B [Homo sapiens]
EIF3B eukaryotic translation initiation factor 3 subunit B [Homo sapiens]Gene ID:8662Gene
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Gene Links for GEO Profiles (Select 80029610) (1)
Gene
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Homo sapiens chromosome 8, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 8, GRCh38.p14 Primary Assemblygi|568815590|gnl|ASM:GCF_000001305| |NC_000008.11||gpp|GPC_000001300.1||gnl|NCBI_GENOMES|8Nucleotide
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BioAssays, RNAi Target, Active for Gene (Select 221496) (2)
PubChem BioAssay
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Last Updated: Aug 25, 2024