G532D (p.Gly532Asp) variant of CLCN5 (P51795)
G532D (p.Gly532Asp) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypophosphatemic rickets, X-linked recessive; Proteinuria, low molecular weight. The record also includes published literature and structural context.
G532D (p.Gly532Asp) variant details
- p.Gly532Asp
- UniProt VAR 065606
- Likely pathogenic
- Hypophosphatemic rickets, X-linked recessive; Proteinuria, low molecular weight
- Missense
- ClinVar: Likely pathogenic (Hypophosphatemic rickets, X-linked recessive; Proteinuria, low m)
- EBI: Pathogenic (in DENT1)
- UniProt: Pathogenic (in DENT1)
- Structural context available
- Cited in: Evidence for genetic heterogeneity in Dent's disease. (PMID 15086899)
- Cited in: Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy. (PMID 16247550)