C111* (p.Cys111Ter) variant of NPHS1 (Nephrin)
C111* (p.Cys111Ter) in NPHS1 (Nephrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
C111* (p.Cys111Ter) variant details
- p.Cys111Ter
- rs755089331
- ClinGen CA405410805
- ClinVar RCV002309441
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)