S118* (p.Ser118Ter) variant of HNRNPU (Q00839)
S118* (p.Ser118Ter) in HNRNPU (Q00839) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S118* (p.Ser118Ter) variant details
- p.Ser118Ter
- rs1057524584
- ClinGen CA16603678
- ClinVar RCV000424048
- ClinVar RCV001824767
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available