E43* (p.Glu43Ter) variant of FLCN (Folliculin)
E43* (p.Glu43Ter) 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.
E43* (p.Glu43Ter) variant details
- p.Glu43Ter
- rs1555611494
- ClinGen CA398535274
- ClinVar RCV000520626
- ClinVar RCV002527611
- 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)