E108* (p.Glu108Ter) variant of NPHS1 (Nephrin)
E108* (p.Glu108Ter) in NPHS1 (Nephrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E108* (p.Glu108Ter) variant details
- p.Glu108Ter
- rs2146831931
- ClinGen CA405410899
- ClinVar RCV001921322
- Ensembl rs2146831931
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available