C11S (p.Cys11Ser) variant of FLCN (Folliculin)
C11S (p.Cys11Ser) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Birt-Hogg-Dube syndrome. The record also includes published literature and structural context.
C11S (p.Cys11Ser) variant details
- p.Cys11Ser
- rs879255659
- ClinGen CA10586273
- ClinVar RCV000239640
- Ensembl rs879255659
- Uncertain significance
- Birt-Hogg-Dube syndrome
- Missense
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)