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:
- RCV000635348.12
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
-
disease resistance protein RGA2 isoform X1 [Oryza sativa Japonica Group]
disease resistance protein RGA2 isoform X1 [Oryza sativa Japonica Group]gi|1002308054|ref|XP_015617419.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024