NM_014795.4(ZEB2):c.2589T>C (p.Thr863=) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 2, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002317497.9
Allele description [Variation Report for NM_014795.4(ZEB2):c.2589T>C (p.Thr863=)]
NM_014795.4(ZEB2):c.2589T>C (p.Thr863=)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
RecName: Full=[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, m...
RecName: Full=[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial; AltName: Full=Pyruvate dehydrogenase kinase isoform 4; Flags: Precursorgi|3183120|sp|Q16654.1|PDK4_HUMANProtein
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Last Updated: Oct 13, 2024