Q139* (p.Gln139Ter) variant of HNRNPU (Q00839)
Q139* (p.Gln139Ter) in HNRNPU (Q00839) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Q139* (p.Gln139Ter) variant details
- p.Gln139Ter
- rs1573337948
- ClinGen CA345497170
- ClinVar RCV000986583
- NCI-TCGA TCGA novel
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)