NM_000245.4(MET):c.2285G>A (p.Gly762Asp) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 10, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002447489.4
Allele description [Variation Report for NM_000245.4(MET):c.2285G>A (p.Gly762Asp)]
NM_000245.4(MET):c.2285G>A (p.Gly762Asp)
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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RecName: Full=WW domain-binding protein 11; Short=WBP-11; AltName: Full=Npw38-bi...
RecName: Full=WW domain-binding protein 11; Short=WBP-11; AltName: Full=Npw38-binding protein; Short=NpwBP; AltName: Full=SH3 domain-binding protein SNP70; AltName: Full=Splicing factor that interacts with PQBP-1 and PP1gi|74735242|sp|Q9Y2W2.1|WBP11_HUMANProtein
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C9orf43 chromosome 9 open reading frame 43 [Homo sapiens]
C9orf43 chromosome 9 open reading frame 43 [Homo sapiens]Gene ID:257169Gene
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Gene Links for GEO Profiles (Select 126371568) (1)
Gene
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ALAD aminolevulinate dehydratase [Homo sapiens]
ALAD aminolevulinate dehydratase [Homo sapiens]Gene ID:210Gene
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Gene Links for GEO Profiles (Select 126352102) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024