NM_000531.6(OTC):c.360G>A (p.Val120=) AND Ornithine carbamoyltransferase deficiency
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000634841.12
Allele description [Variation Report for NM_000531.6(OTC):c.360G>A (p.Val120=)]
NM_000531.6(OTC):c.360G>A (p.Val120=)
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
-
hypothetical protein FRACYDRAFT_179351 [Fragilariopsis cylindrus CCMP1102]
hypothetical protein FRACYDRAFT_179351 [Fragilariopsis cylindrus CCMP1102]gi|1072237566|gb|OEU22293.1||gnl|WG G|FRACYDRAFT_179351Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024