A213T (p.Ala213Thr) variant of NPHS2 (Podocin)
A213T (p.Ala213Thr) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Idiopathic nephrotic syndrome. The record also includes published literature and structural context.
A213T (p.Ala213Thr) variant details
- p.Ala213Thr
- UniProt VAR 072150
- Likely pathogenic
- Idiopathic nephrotic syndrome
- Missense
- ClinVar: Likely pathogenic (Idiopathic nephrotic syndrome)
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Structural context available
- Cited in: NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. (PMID 17899208)
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)