NM_000531.6(OTC):c.1005+11A>T AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626697.2
Allele description [Variation Report for NM_000531.6(OTC):c.1005+11A>T]
NM_000531.6(OTC):c.1005+11A>T
Condition(s)
- Name:
- Global developmental delay (DD)
- Identifiers:
- MedGen: C0557874; Human Phenotype Ontology: HP:0001263
- Name:
- Hyperammonemia
- Synonyms:
- Hyperammonaemia
- Identifiers:
- MedGen: C5574662; Human Phenotype Ontology: HP:0001987
Assertion and evidence details
Last Updated: Feb 28, 2024