Q39* (p.Gln39Ter) variant of NPHS2 (Podocin)
Q39* (p.Gln39Ter) in NPHS2 (Podocin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in NPHS2. The record also includes published literature and structural context.
Q39* (p.Gln39Ter) variant details
- p.Gln39Ter
- rs869312746
- ClinGen CA354118
- ClinVar RCV000210047
- Ensembl rs869312746
- Uncertain significance
- in NPHS2
- Stop Gained
- EBI: Variant of uncertain significance (in NPHS2)
- UniProt: Uncertain significance (in NPHS2)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)