NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) AND Hepatocellular 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:
- RCV000444311.1
Allele description [Variation Report for NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)]
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
Condition(s)
- 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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Homologene neighbors for GEO Profiles (Select 71408473) (0)
GEO Profiles
-
txid438425[Organism:noexp] (8)
PMC
-
Protein Links for Gene (Select 3911) (27)
Protein
-
Nucleotide Links for Protein (Select 1034649126) (2)
Nucleotide
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Xenopus laevis voucher RBINS 18720 cytochrome c oxidase subunit I (COX1) gene, p...
Xenopus laevis voucher RBINS 18720 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrialgi|2431254631|gb|OQ318520.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024