Q111* (p.Gln111Ter) variant of NEB (Nebulin)
Q111* (p.Gln111Ter) in NEB (Nebulin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
Q111* (p.Gln111Ter) variant details
- p.Gln111Ter
- rs2552279991
- ClinGen CA348793775
- ClinVar RCV003516572
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)