NM_000373.4(UMPS):c.*4016T>C AND Orotic aciduria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000287420.6
Allele description [Variation Report for NM_000373.4(UMPS):c.*4016T>C]
NM_000373.4(UMPS):c.*4016T>C
Condition(s)
- Name:
- Orotic aciduria
- Synonyms:
- OROTIC ACIDURIA I; OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY; OPRT AND ODC DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009797; MedGen: C0268128; Orphanet: 30; OMIM: 258900; Human Phenotype Ontology: HP:0003218
Assertion and evidence details
Last Updated: Mar 16, 2024