NM_000245.4(MET):c.406G>A (p.Val136Ile) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 23, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000515234.9
Allele description [Variation Report for NM_000245.4(MET):c.406G>A (p.Val136Ile)]
NM_000245.4(MET):c.406G>A (p.Val136Ile)
Condition(s)
- Name:
- Osteofibrous dysplasia (OSFD)
- Synonyms:
- Tibia, bowing of, with pseudarthrosis and pectus excavatum
- Identifiers:
- MONDO: MONDO:0011806; MedGen: C4085248; OMIM: 607278
- 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
- Name:
- Hepatocellular carcinoma (HCC)
- Synonyms:
- Primary carcinoma of liver; Hepatoma; LIVER CELL CARCINOMA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007256; MedGen: C2239176; OMIM: 114550; Human Phenotype Ontology: HP:0001402
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Chroococcidiopsidales 16S ribosomal RNA gene, partial sequence; 16S-23S ribosoma...
Chroococcidiopsidales 16S ribosomal RNA gene, partial sequence; 16S-23S ribosomal RNA intergenic spacer, tRNA-Ile (trnI) and tRNA-Ala (trnA) genes, complete sequence; and 23S ribosomal RNA gene, partial sequence.PopSet: 2594665696PopSet
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PopSet Links for PMC (Select 10587186) (1)
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Homo sapiens isolate CHM13 chromosome 3, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 3, alternate assembly T2T-CHM13v2.0gi|2194974489|gnl|ASM:GCF_009914825 f|NC_060927.1||gpp|GPC_000012742.1||gnl|NCBI_GENOMES|119563Nucleotide
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Last Updated: Jun 17, 2024