NM_000179.3(MSH6):c.3619_3620del (p.His1207fs) AND Endometrial carcinoma
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003467660.1
Allele description [Variation Report for NM_000179.3(MSH6):c.3619_3620del (p.His1207fs)]
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs)
Condition(s)
- Name:
- Endometrial carcinoma
- Synonyms:
- Endometrial carcinoma, somatic
- Identifiers:
- MONDO: MONDO:0002447; MedGen: C0476089; OMIM: 608089; Human Phenotype Ontology: HP:0012114
-
serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform...
serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform c [Homo sapiens]gi|32307119|ref|NP_858063.1|Protein
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Last Updated: Oct 8, 2024