NM_000048.4(ASL):c.204C>T (p.Asp68=) AND Argininosuccinate lyase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001496807.6
Allele description [Variation Report for NM_000048.4(ASL):c.204C>T (p.Asp68=)]
NM_000048.4(ASL):c.204C>T (p.Asp68=)
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
-
Tssr1107 AND (alive[prop]) (0)
Gene
-
leukocyte-associated immunoglobulin-like receptor 1 isoform a precursor [Homo sa...
leukocyte-associated immunoglobulin-like receptor 1 isoform a precursor [Homo sapiens]gi|4504943|ref|NP_002278.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 20, 2024