G79R (p.Gly79Arg) variant of NPHS1 (Nephrin)
G79R (p.Gly79Arg) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
G79R (p.Gly79Arg) variant details
- p.Gly79Arg
- rs2513785701
- ClinGen CA2580096901
- ClinVar RCV002307111
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)