NM_000183.3(HADHB):c.427C>G (p.Gln143Glu) AND Mitochondrial trifunctional protein deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001249196.1
Allele description [Variation Report for NM_000183.3(HADHB):c.427C>G (p.Gln143Glu)]
NM_000183.3(HADHB):c.427C>G (p.Gln143Glu)
Condition(s)
-
Lipid A
Lipid ALipid A is the biologically active component of lipopolysaccharides. It shows strong endotoxic activity and exhibits immunogenic properties.<br/>Year introduced: 1984MeSH
-
D008050 (1)
MeSH
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Last Updated: Feb 20, 2024