G92R (p.Gly92Arg) variant of NPHS2 (Podocin)
G92R (p.Gly92Arg) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NPHS2. The record also includes structural context.
G92R (p.Gly92Arg) variant details
- p.Gly92Arg
- gnomAD rs74315345
- Pathogenic
- in NPHS2
- Missense
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Structural context available