NC_000007.13:g.(?_65546770)_(65557899_?)dup AND Argininosuccinate lyase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003119145.3
Allele description [Variation Report for NC_000007.13:g.(?_65546770)_(65557899_?)dup]
NC_000007.13:g.(?_65546770)_(65557899_?)dup
Condition(s)
- Name:
- Argininosuccinate lyase deficiency
- Synonyms:
- Arginino succinase deficiency; Inborn error of urea synthesis, arginino succinic type; Urea cycle disorder, arginino succinase type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008815; MedGen: C0268547; Orphanet: 23; OMIM: 207900; Human Phenotype Ontology: HP:0025630
Assertion and evidence details
Last Updated: Nov 11, 2023