C94G (p.Cys94Gly) variant of UMOD (Uromodulin)
C94G (p.Cys94Gly) in UMOD (Uromodulin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C94G (p.Cys94Gly) variant details
- p.Cys94Gly
- Ensembl rs2141676543
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available