NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg) AND Renal carnitine transport defect
- Germline classification:
- Pathogenic/Likely pathogenic (6 submissions)
- Last evaluated:
- Mar 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000526996.17
Allele description [Variation Report for NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)]
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)
Condition(s)
- Name:
- Renal carnitine transport defect (CDSP)
- Synonyms:
- CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE; CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF; CARNITINE UPTAKE DEFECT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008919; MedGen: C0342788; Orphanet: 158; OMIM: 212140
Assertion and evidence details
Last Updated: Feb 1, 2025