NM_003060.4(SLC22A5):c.1080G>C (p.Gly360=) AND Decreased circulating carnitine concentration
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 4, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002226503.9
Allele description [Variation Report for NM_003060.4(SLC22A5):c.1080G>C (p.Gly360=)]
NM_003060.4(SLC22A5):c.1080G>C (p.Gly360=)
Condition(s)
- Name:
- Decreased circulating carnitine concentration
- Synonyms:
- Decreased plasma carnitine
- Identifiers:
- MedGen: C5848230; Human Phenotype Ontology: HP:0003234
Assertion and evidence details
Last Updated: Oct 8, 2024