T5R (p.Thr5Arg) variant of NPHS1 (Nephrin)
T5R (p.Thr5Arg) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
T5R (p.Thr5Arg) variant details
- p.Thr5Arg
- rs2513787438
- ClinGen CA2576759101
- ClinVar RCV003555126
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available