G249V (p.Gly249Val) variant of CLCN5 (P51795)
G249V (p.Gly249Val) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dent disease type 1. The record also includes published literature and structural context.
G249V (p.Gly249Val) variant details
- p.Gly249Val
- rs2519421939
- ClinGen CA413184047
- ClinVar RCV003986004
- Likely pathogenic
- Dent disease type 1
- Missense
- ClinVar: Likely pathogenic (Dent disease type 1)
- EBI: Likely pathogenic (in DENT1)
- UniProt: Likely pathogenic (in DENT1)
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)