NM_000546.6(TP53):c.814G>A (p.Val272Met) AND Papillary renal cell carcinoma type 1
- 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:
- RCV000418746.3
Allele description [Variation Report for NM_000546.6(TP53):c.814G>A (p.Val272Met)]
NM_000546.6(TP53):c.814G>A (p.Val272Met)
Condition(s)
- Name:
- Papillary renal cell carcinoma type 1 (RCCP1)
- Synonyms:
- RENAL CELL CARCINOMA, PAPILLARY, 1, SOMATIC; Renal adenocarcinoma; Renal cell carcinoma 1; See all synonyms [MedGen]
- Identifiers:
- MedGen: C1336839; Orphanet: 47044; OMIM: 605074; Human Phenotype Ontology: HP:0011797
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Homo sapiens BAGE family member 2 (pseudogene) (BAGE2), transcript variant 2, no...
Homo sapiens BAGE family member 2 (pseudogene) (BAGE2), transcript variant 2, non-coding RNAgi|1859877457|ref|NR_169270.1|Nucleotide
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Last Updated: Oct 20, 2024