NM_000048.4(ASL):c.656-5C>T AND Argininosuccinate lyase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001414922.7
Allele description [Variation Report for NM_000048.4(ASL):c.656-5C>T]
NM_000048.4(ASL):c.656-5C>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
-
S41 family peptidase [Aeribacillus composti]
S41 family peptidase [Aeribacillus composti]gi|2579543038|gnl|PRJNA1015106|RI19 10|gb|WNF33746.1|Protein
-
peptidase S41 [Pseudodesulfovibrio portus]
peptidase S41 [Pseudodesulfovibrio portus]gi|2296713108|dbj|BDQ32719.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024