NM_000048.4(ASL):c.208-1G>T AND Argininosuccinate lyase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003472645.1
Allele description [Variation Report for NM_000048.4(ASL):c.208-1G>T]
NM_000048.4(ASL):c.208-1G>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
-
602375 (1)
OMIM
-
Human DNA sequence from clone RP1-202O8 on chromosome 1p36.11-36.31, complete se...
Human DNA sequence from clone RP1-202O8 on chromosome 1p36.11-36.31, complete sequencegi|4914512|emb|AL031848.11|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023