NM_000531.6(OTC):c.945C>A (p.Val315=) AND Ornithine carbamoyltransferase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001490232.7
Allele description [Variation Report for NM_000531.6(OTC):c.945C>A (p.Val315=)]
NM_000531.6(OTC):c.945C>A (p.Val315=)
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
-
100911[uid] AND (alive[prop]) (0)
Gene
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BX709725 XGC-tadpole Xenopus tropicalis cDNA clone TTpA004h07 3', mRNA sequence
BX709725 XGC-tadpole Xenopus tropicalis cDNA clone TTpA004h07 3', mRNA sequencegi|38381828|gnl|dbEST|20426859|emb| 725.1|Nucleotide
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BJ632762 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ632762 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL175p21 3', mRNA sequencegi|37284278|gnl|dbEST|19937773|dbj| 762.1|Nucleotide
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BP673250 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus la...
BP673250 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus laevis cDNA clone XL413d14ex 5', mRNA sequencegi|54625411|gnl|dbEST|26200453|dbj| 250.2|Nucleotide
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Last Updated: Sep 29, 2024