NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002512815.3
Allele description [Variation Report for NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)]
NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
RecName: Full=Dihydrolipoyllysine-residue succinyltransferase component of 2-oxo...
RecName: Full=Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial; Short=DLST; AltName: Full=2-oxoglutarate dehydrogenase complex component E2; Short=OGDC-E2; Short=OGDHC subunit E2; AltName: Full=Alpha-ketoglutarate dehydrogenase subunit E2; Short=alpha-KGDHC subunit E2; AltName: Full=Dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex; Flags: Precursorgi|1352619|sp|P19262.2|ODO2_YEASTProtein
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Last Updated: Sep 29, 2024