NM_003060.4(SLC22A5):c.13del (p.Asp5fs) AND Renal carnitine transport defect
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 15, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000665371.1
Allele description [Variation Report for NM_003060.4(SLC22A5):c.13del (p.Asp5fs)]
NM_003060.4(SLC22A5):c.13del (p.Asp5fs)
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
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Mus musculus serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiprot...
Mus musculus serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (Serpina10), transcript variant 1, mRNAgi|2319699971|ref|NM_144834.5|Nucleotide
-
Homo sapiens guanylate cyclase activator 1B (GUCA1B), RefSeqGene on chromosome 6
Homo sapiens guanylate cyclase activator 1B (GUCA1B), RefSeqGene on chromosome 6gi|2296125237|ref|NG_016216.2|Nucleotide
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Last Updated: Nov 29, 2022