NM_003060.4(SLC22A5):c.1451-11C>G AND Renal carnitine transport defect
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003859116.1
Allele description [Variation Report for NM_003060.4(SLC22A5):c.1451-11C>G]
NM_003060.4(SLC22A5):c.1451-11C>G
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
-
glycerophosphodiester phosphodiesterase family protein [Bacillus licheniformis]
glycerophosphodiester phosphodiesterase family protein [Bacillus licheniformis]gi|2099772498|ref|WP_223307090.1|Protein
-
MULTISPECIES: ABC transporter substrate-binding protein [Bacillus]
MULTISPECIES: ABC transporter substrate-binding protein [Bacillus]gi|489276915|ref|WP_003184596.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024