NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile) AND Decreased circulating carnitine concentration
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002226475.9
Allele description [Variation Report for NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile)]
NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile)
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 20, 2024