Q41* (p.Gln41Ter) variant of FLCN (Folliculin)
Q41* (p.Gln41Ter) in FLCN (Folliculin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q41* (p.Gln41Ter) variant details
- p.Gln41Ter
- rs1254608489
- ClinGen CA398535287
- ClinVar RCV000692108
- ClinVar RCV002352139
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: 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)