NM_000531.6(OTC):c.208A>T (p.Lys70Ter) AND Ornithine carbamoyltransferase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002307237.2
Allele description [Variation Report for NM_000531.6(OTC):c.208A>T (p.Lys70Ter)]
NM_000531.6(OTC):c.208A>T (p.Lys70Ter)
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
-
excinuclease ABC subunit UvrC [Methanobacterium paludis]
excinuclease ABC subunit UvrC [Methanobacterium paludis]gi|503591507|ref|WP_013825583.1|Protein
-
Sema6b (8)
OMIM
-
Mus musculus cyclin-dependent kinase 4, mRNA (cDNA clone IMAGE:3991748), **** WA...
Mus musculus cyclin-dependent kinase 4, mRNA (cDNA clone IMAGE:3991748), **** WARNING: chimeric clone ****gi|92444267|gb|BC031599.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 26, 2023