NM_020806.5(GPHN):c.1797T>C (p.Asp599=) AND Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000546759.12
Allele description [Variation Report for NM_020806.5(GPHN):c.1797T>C (p.Asp599=)]
NM_020806.5(GPHN):c.1797T>C (p.Asp599=)
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: Oct 8, 2024