NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter) AND Hereditary nonpolyposis colorectal neoplasms
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000228304.13
Allele description [Variation Report for NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter)]
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter)
Condition(s)
- Name:
- Hereditary nonpolyposis colorectal neoplasms
- Identifiers:
- MeSH: D003123; MedGen: C0009405
-
Homo sapiens oxoglutarate receptor 1 (OXGR1), transcript variant 5, mRNA
Homo sapiens oxoglutarate receptor 1 (OXGR1), transcript variant 5, mRNAgi|1890341705|ref|NM_080818.5|Nucleotide
-
transcription factor HES-5 [Homo sapiens]
transcription factor HES-5 [Homo sapiens]gi|58219048|ref|NP_001010926.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024