Q27* (p.Gln27Ter) variant of NF1 (Neurofibromin)
Q27* (p.Gln27Ter) in NF1 (Neurofibromin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q27* (p.Gln27Ter) variant details
- p.Gln27Ter
- rs1060500363
- ClinGen CA16615539
- ClinVar RCV000469252
- ClinVar RCV000585221
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)