NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met) AND Decreased circulating carnitine concentration
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002226473.9
Allele description [Variation Report for NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met)]
NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met)
Condition(s)
- Name:
- Decreased circulating carnitine concentration
- Synonyms:
- Decreased plasma carnitine
- Identifiers:
- MedGen: C5848230; Human Phenotype Ontology: HP:0003234
-
LOC102612429 [Citrus sinensis]
LOC102612429 [Citrus sinensis]Gene ID:102612429Gene
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Last Updated: Oct 13, 2024