G576R (p.Gly576Arg) variant of CLCN5 (P51795)
G576R (p.Gly576Arg) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypophosphatemic rickets, X-linked recessive; Proteinuria, low molecular weight. The record also includes structural context.
G576R (p.Gly576Arg) variant details
- p.Gly576Arg
- rs2519440912
- ClinGen CA413188510
- ClinVar RCV003714339
- Pathogenic
- Hypophosphatemic rickets, X-linked recessive; Proteinuria, low molecular weight
- Missense
- ClinVar: Pathogenic (Hypophosphatemic rickets, X-linked recessive; Proteinuria, low m)
- EBI: Likely pathogenic (in XRN)
- UniProt: Likely pathogenic (in XRN)
- Structural context available