NM_000531.6(OTC):c.774T>G (p.Asn258Lys) AND Ornithine carbamoyltransferase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003486177.2
Allele description [Variation Report for NM_000531.6(OTC):c.774T>G (p.Asn258Lys)]
NM_000531.6(OTC):c.774T>G (p.Asn258Lys)
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
-
Arabidopsis thaliana tyrosyl-DNA phosphodiesterase-like protein (TDP1), mRNA
Arabidopsis thaliana tyrosyl-DNA phosphodiesterase-like protein (TDP1), mRNAgi|1063732000|ref|NM_121521.4|Nucleotide
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Last Updated: Mar 16, 2024