NM_000048.4(ASL):c.771C>T (p.Ala257=) AND Argininosuccinate lyase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001493168.7
Allele description [Variation Report for NM_000048.4(ASL):c.771C>T (p.Ala257=)]
NM_000048.4(ASL):c.771C>T (p.Ala257=)
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
-
Oxandra leucodermis (9)
Taxonomy
-
JGI_CAAN9211.rev NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7694618 3',...
JGI_CAAN9211.rev NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7694618 3', mRNA sequencegi|71928881|gnl|dbEST|30595487|gb|C 24.2|Nucleotide
-
CBWN4842.g1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8856710 3', mR...
CBWN4842.g1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8856710 3', mRNA sequencegi|133785338|gnl|dbEST|45214942|gb| 982.1|Nucleotide
-
BJ627039 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ627039 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL216m20 5', mRNA sequencegi|37273248|gnl|dbEST|19932050|dbj| 039.1|Nucleotide
-
AGENCOURT_8670834 NICHD_XGC_Emb4 Xenopus laevis cDNA clone IMAGE:4681560 5', mRN...
AGENCOURT_8670834 NICHD_XGC_Emb4 Xenopus laevis cDNA clone IMAGE:4681560 5', mRNA sequencegi|22289444|gnl|dbEST|13189754|gb|B 30.1|Nucleotide
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Last Updated: Sep 29, 2024