C124R (p.Cys124Arg) variant of NPHS2 (Podocin)
C124R (p.Cys124Arg) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Nephrotic syndrome, type 2; not provided. The record also includes published literature and structural context.
C124R (p.Cys124Arg) variant details
- p.Cys124Arg
- rs2526313561
- ClinGen CA343570783
- ClinVar RCV002658177
- ClinVar RCV003465808
- Pathogenic/Likely pathogenic
- Nephrotic syndrome, type 2; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Nephrotic syndrome, type 2; not provided)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)