NM_054012.4(ASS1):c.897C>T (p.Ala299=) AND Citrullinemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002844025.2
Allele description [Variation Report for NM_054012.4(ASS1):c.897C>T (p.Ala299=)]
NM_054012.4(ASS1):c.897C>T (p.Ala299=)
Condition(s)
- Name:
- Citrullinemia
- Synonyms:
- Citrullinuria
- Identifiers:
- MONDO: MONDO:0015991; MedGen: C0175683; Human Phenotype Ontology: HP:0032397
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C2676271[trait identifier] AND "Johns Hopkins Genomics, Johns Hop... (1)
C2676271[trait identifier] AND "Johns Hopkins Genomics, Johns Hopkins University"[submitter]SearchClinVar
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See more...Assertion and evidence details
Last Updated: May 12, 2024