Q115* (p.Gln115Ter) variant of NCF2 (Neutrophil cytosol factor 2)
Q115* (p.Gln115Ter) in NCF2 (Neutrophil cytosol factor 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q115* (p.Gln115Ter) variant details
- p.Gln115Ter
- rs2527976811
- NCI-TCGA Cosmic COSV6231
- cosmic curated COSV62316
- ClinGen CA343678915
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)