NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val) AND Renal carnitine transport defect
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000635348.11
Allele description [Variation Report for NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val)]
NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val)
Condition(s)
- Name:
- Renal carnitine transport defect (CDSP)
- Synonyms:
- CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF; Primary carnitine deficiency; Carnitine uptake defect; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008919; MedGen: C0342788; Orphanet: 158; OMIM: 212140
-
ATP-dependent helicase SGS1 [Saccharomyces cerevisiae RM11-1a]
ATP-dependent helicase SGS1 [Saccharomyces cerevisiae RM11-1a]gi|190408415|gb|EDV11680.1||gnl|WGS |SCRT_02083Protein
-
319879[uid] AND (alive[prop]) (0)
Gene
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Last Updated: Sep 8, 2024