NM_000048.4(ASL):c.834-5C>T AND Argininosuccinate lyase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001440541.7
Allele description [Variation Report for NM_000048.4(ASL):c.834-5C>T]
NM_000048.4(ASL):c.834-5C>T
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
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Mus musculus protein phosphatase 6, regulatory subunit 2 (Ppp6r2), transcript va...
Mus musculus protein phosphatase 6, regulatory subunit 2 (Ppp6r2), transcript variant 3, mRNAgi|1255287562|ref|NM_001356970.1|Nucleotide
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Last Updated: Sep 29, 2024