Q63* (p.Gln63Ter) variant of NPHS1 (Nephrin)
Q63* (p.Gln63Ter) in NPHS1 (Nephrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Q63* (p.Gln63Ter) variant details
- p.Gln63Ter
- rs2513785885
- ClinGen CA405411591
- ClinVar RCV002310466
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)