F20* (p.Phe20Ter) variant of FLCN (Folliculin)
F20* (p.Phe20Ter) in FLCN (Folliculin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
F20* (p.Phe20Ter) variant details
- p.Phe20Ter
- rs2544313773
- ClinGen CA2695201256
- ClinVar RCV003461591
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)