Y67* (p.Tyr67Ter) variant of KIF1A (Kinesin-like protein KIF1A)
Y67* (p.Tyr67Ter) in KIF1A (Kinesin-like protein KIF1A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
Y67* (p.Tyr67Ter) variant details
- p.Tyr67Ter
- rs2538439290
- ClinGen CA2580068121
- ClinVar RCV002867284
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)