F17* (p.Phe17Ter) variant of NF1 (Neurofibromin)
F17* (p.Phe17Ter) 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.
F17* (p.Phe17Ter) variant details
- p.Phe17Ter
- rs2544511554
- ClinGen CA2580093206
- ClinVar RCV002885113
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 17636453)