NM_003060.4(SLC22A5):c.675A>C (p.Ser225=) AND Renal carnitine transport defect
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003616136.2
Allele description [Variation Report for NM_003060.4(SLC22A5):c.675A>C (p.Ser225=)]
NM_003060.4(SLC22A5):c.675A>C (p.Ser225=)
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
-
C-terminal processing peptidase [Hydrogenobaculum sp. SN]
C-terminal processing peptidase [Hydrogenobaculum sp. SN]gi|469932537|gnl|jgi|HydSN_0708|gb| 314.1|Protein
-
IucA/IucC family protein [Methylorubrum extorquens CM4]
IucA/IucC family protein [Methylorubrum extorquens CM4]gi|218524270|gnl|jgi|Mchl_4055|gb|A 55.1|Protein
-
MME1 [Drosophila persimilis]
MME1 [Drosophila persimilis]Gene ID:6593687Gene
-
Cpr76Bd Cuticular protein 76Bd [Drosophila melanogaster]
Cpr76Bd Cuticular protein 76Bd [Drosophila melanogaster]Gene ID:40123Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024