NM_054012.4(ASS1):c.317C>G (p.Ala106Gly) AND Citrullinemia
- Germline classification:
- Uncertain significance (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:
- RCV002937745.2
Allele description [Variation Report for NM_054012.4(ASS1):c.317C>G (p.Ala106Gly)]
NM_054012.4(ASS1):c.317C>G (p.Ala106Gly)
Condition(s)
- Name:
- Citrullinemia
- Synonyms:
- Citrullinuria
- Identifiers:
- MONDO: MONDO:0015991; MedGen: C0175683; Human Phenotype Ontology: HP:0032397
-
acetolactate synthase 2 small subunit [Testudinibacter aquarius]
acetolactate synthase 2 small subunit [Testudinibacter aquarius]gi|1593241580|ref|WP_132968190.1|Protein
-
H3C4[gene] (33)
ClinVar
-
G/U mismatch-specific DNA glycosylase [Propionibacterium freudenreichii]
G/U mismatch-specific DNA glycosylase [Propionibacterium freudenreichii]gi|732145376|emb|CEH01726.1||gnl|WG W|CEH01726Protein
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See more...Assertion and evidence details
Last Updated: May 12, 2024