NM_000531.6(OTC):c.819G>A (p.Glu273=) AND Ornithine carbamoyltransferase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 8, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001427907.14
Allele description [Variation Report for NM_000531.6(OTC):c.819G>A (p.Glu273=)]
NM_000531.6(OTC):c.819G>A (p.Glu273=)
Condition(s)
- Name:
- Ornithine carbamoyltransferase deficiency (OTCD)
- Synonyms:
- ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; Ornithine transcarbamylase deficiency; OTC deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010703; MedGen: C0268542; Orphanet: 664; OMIM: 311250
Assertion and evidence details
Last Updated: Aug 18, 2024