M1V (p.Met1Val) variant of CLCN5 (P51795)
M1V (p.Met1Val) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dent disease type 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2519188777
- ClinGen CA413175949
- ClinVar RCV002472296
- Uncertain significance
- Dent disease type 1
- Missense
- ClinVar: Uncertain significance (Dent disease type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)