Q207R (p.Gln207Arg) variant of SLC22A5 (O76082)
Q207R (p.Gln207Arg) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Renal carnitine transport defect. The record also includes published literature and structural context.
Q207R (p.Gln207Arg) variant details
- p.Gln207Arg
- rs2532117630
- ClinGen CA360804863
- ClinVar RCV003616417
- Pathogenic
- Renal carnitine transport defect
- Missense
- ClinVar: Pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)