NM_054012.4(ASS1):c.838+12C>A AND Citrullinemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003594734.1
Allele description [Variation Report for NM_054012.4(ASS1):c.838+12C>A]
NM_054012.4(ASS1):c.838+12C>A
Condition(s)
- Name:
- Citrullinemia
- Synonyms:
- Citrullinuria
- Identifiers:
- MONDO: MONDO:0015991; MedGen: C0175683; Human Phenotype Ontology: HP:0032397
-
H.sapiens mRNA for major astrocytic phosphoprotein PEA-15
H.sapiens mRNA for major astrocytic phosphoprotein PEA-15gi|854166|emb|X86809.1|Nucleotide
-
Homo sapiens cDNA FLJ20481 fis, clone KAT07534
Homo sapiens cDNA FLJ20481 fis, clone KAT07534gi|7020610|dbj|AK000488.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 12, 2024