NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002482817.2
Allele description [Variation Report for NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)]
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
Condition(s)
-
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