Q98* (p.Gln98Ter) variant of GCK (Hexokinase-4)
Q98* (p.Gln98Ter) in GCK (Hexokinase-4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q98* (p.Gln98Ter) variant details
- p.Gln98Ter
- rs2484535560
- ClinGen CA367402818
- ClinVar RCV003893758
- ClinVar RCV005430867
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available