NM_000048.4(ASL):c.930C>T (p.Leu310=) AND Argininosuccinate lyase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003498064.2
Allele description [Variation Report for NM_000048.4(ASL):c.930C>T (p.Leu310=)]
NM_000048.4(ASL):c.930C>T (p.Leu310=)
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
-
retinoid X receptor gamma, isoform CRA_b [Rattus norvegicus]
retinoid X receptor gamma, isoform CRA_b [Rattus norvegicus]gi|149058123|gb|EDM09280.1||gnl|WGS |rCP34314Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024