G600V (p.Gly600Val) variant of CLCN5 (P51795)
G600V (p.Gly600Val) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar 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.
G600V (p.Gly600Val) variant details
- p.Gly600Val
- NCI-TCGA Cosmic COSV5658
- cosmic curated COSV56583
- Pathogenic
- Hypophosphatemic rickets, X-linked recessive; Proteinuria, low molecular weight
- Missense
- ClinVar: Pathogenic (Hypophosphatemic rickets, X-linked recessive; Proteinuria, low m)
- UniProt: Pathogenic
- Structural context available