NM_000249.4(MLH1):c.215A>G (p.Asp72Gly) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000581050.3
Allele description [Variation Report for NM_000249.4(MLH1):c.215A>G (p.Asp72Gly)]
NM_000249.4(MLH1):c.215A>G (p.Asp72Gly)
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
-
RecName: Full=Ribosome production factor 1; AltName: Full=Brix domain-containing...
RecName: Full=Ribosome production factor 1; AltName: Full=Brix domain-containing protein 5; AltName: Full=Ribosome biogenesis protein RPF1gi|71153719|sp|Q7TND5.2|RPF1_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024