NM_000249.4(MLH1):c.29G>A (p.Arg10Gln) AND Hereditary nonpolyposis colorectal neoplasms
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000690244.12
Allele description [Variation Report for NM_000249.4(MLH1):c.29G>A (p.Arg10Gln)]
NM_000249.4(MLH1):c.29G>A (p.Arg10Gln)
Condition(s)
- Name:
- Hereditary nonpolyposis colorectal neoplasms
- Identifiers:
- MeSH: D003123; MedGen: C0009405
-
RecName: Full=Dicarboxylate carrier SLC25A8; AltName: Full=Mitochondrial uncoupl...
RecName: Full=Dicarboxylate carrier SLC25A8; AltName: Full=Mitochondrial uncoupling protein 2; Short=UCP 2; AltName: Full=Solute carrier family 25 member 8; AltName: Full=UCPHgi|2497981|sp|P55851.1|UCP2_HUMANProtein
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Last Updated: Oct 13, 2024