NM_000048.4(ASL):c.337C>T (p.Arg113Trp) AND Argininosuccinate lyase deficiency
- Germline classification:
- Pathogenic/Likely pathogenic (5 submissions)
- Last evaluated:
- Feb 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000668492.15
Allele description [Variation Report for NM_000048.4(ASL):c.337C>T (p.Arg113Trp)]
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)
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
-
uncharacterized protein EKO05_0007645 [Ascochyta rabiei]
uncharacterized protein EKO05_0007645 [Ascochyta rabiei]gi|1955516928|ref|XP_038797213.1|Protein
-
F410_gp087 [Erwinia phage vB_EamP-S6]
F410_gp087 [Erwinia phage vB_EamP-S6]Gene ID:14013775Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024