NM_054012.4(ASS1):c.839-19T>C AND Citrullinemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003760277.1
Allele description [Variation Report for NM_054012.4(ASS1):c.839-19T>C]
NM_054012.4(ASS1):c.839-19T>C
Condition(s)
- Name:
- Citrullinemia
- Synonyms:
- Citrullinuria
- Identifiers:
- MONDO: MONDO:0015991; MedGen: C0175683; OMIM: PS215700; Human Phenotype Ontology: HP:0032397
Assertion and evidence details
Last Updated: Jul 15, 2024