Q31* (p.Gln31Ter) variant of FLCN (Folliculin)
Q31* (p.Gln31Ter) 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.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- rs1597618162
- ClinGen CA398535352
- ClinVar RCV001018999
- ClinVar RCV003607382
- 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)