W79* (p.Trp79Ter) variant of KCNJ10 (P78508)
W79* (p.Trp79Ter) in KCNJ10 (P78508) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
W79* (p.Trp79Ter) variant details
- p.Trp79Ter
- rs2525430986
- ClinGen CA343229348
- ClinVar RCV003618900
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic