T58* (p.Thr58Ter) variant of RHO (Rhodopsin)
T58* (p.Thr58Ter) in RHO (Rhodopsin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in RP4. The record also includes structural context.
T58* (p.Thr58Ter) variant details
- p.Thr58Ter
- rs2084757329
- ClinGen CA916082603
- ClinVar RCV001075164
- ClinVar RCV003718311
- Pathogenic
- in RP4
- Stop Gained
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available