NM_000048.4(ASL):c.446+14G>A AND Argininosuccinate lyase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002610864.3
Allele description [Variation Report for NM_000048.4(ASL):c.446+14G>A]
NM_000048.4(ASL):c.446+14G>A
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
-
Altima (295)
PMC
-
Altima AND 1[s_discriminator] (0)
dbGaP
-
Xenopus tropicalis hypothetical LOC548403, mRNA (cDNA clone MGC:147040 IMAGE:772...
Xenopus tropicalis hypothetical LOC548403, mRNA (cDNA clone MGC:147040 IMAGE:7724554), complete cdsgi|116063342|gb|BC123048.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024