NM_000048.4(ASL):c.960C>A (p.Thr320=) AND Argininosuccinate lyase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001482628.7
Allele description [Variation Report for NM_000048.4(ASL):c.960C>A (p.Thr320=)]
NM_000048.4(ASL):c.960C>A (p.Thr320=)
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
-
Mus musculus heparan sulfate 6-O-sulfotransferase 2 (Hs6st2), transcript variant...
Mus musculus heparan sulfate 6-O-sulfotransferase 2 (Hs6st2), transcript variant 3, mRNAgi|2626951099|ref|NM_001290467.2|Nucleotide
-
E4 ORF4 [Human adenovirus 2]
E4 ORF4 [Human adenovirus 2]gi|56160525|ref|AP_000193.1|Protein
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Mus musculus membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3), m...
Mus musculus membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3), mRNA (cDNA clone IMAGE:5696641), containing frame-shift errorsgi|30705094|gb|BC052003.1|Nucleotide
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Last Updated: Sep 29, 2024