NM_000048.4(ASL):c.928C>T (p.Leu310Phe) AND Argininosuccinate lyase deficiency
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001037258.9
Allele description [Variation Report for NM_000048.4(ASL):c.928C>T (p.Leu310Phe)]
NM_000048.4(ASL):c.928C>T (p.Leu310Phe)
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: Feb 28, 2024