NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jul 20, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000163261.15
Allele description [Variation Report for NM_000245.4(MET):c.2975C>T (p.Thr992Ile)]
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
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BioSample links for Nucleotide (Select 74230040) (1)
BioSample
-
Sample from Homo sapiens
Sample from Homo sapiensbiosample
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Homo sapiens
Homo sapiensRefSeq annotation of the human reference genome assemblyBioProject
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BioProject Links for Protein (Select 530376803) (1)
BioProject
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Last Updated: Jun 2, 2024