Q103* (p.Gln103Ter) variant of HNRNPU (Q00839)
Q103* (p.Gln103Ter) in HNRNPU (Q00839) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q103* (p.Gln103Ter) variant details
- p.Gln103Ter
- rs1553283951
- ClinGen CA16610079
- ClinVar RCV002525546
- Ensembl rs1553283951
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)