NM_000531.6(OTC):c.128T>C (p.Leu43Pro) AND Ornithine carbamoyltransferase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001201344.1
Allele description [Variation Report for NM_000531.6(OTC):c.128T>C (p.Leu43Pro)]
NM_000531.6(OTC):c.128T>C (p.Leu43Pro)
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: Mar 26, 2023