G17A (p.Gly17Ala) variant of NPHS2 (Podocin)
G17A (p.Gly17Ala) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- rs2526380257
- ClinVar RCV004574394
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)