L29H (p.Leu29His) variant of FLCN (Folliculin)
L29H (p.Leu29His) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome. The record also includes published literature and structural context.
L29H (p.Leu29His) variant details
- p.Leu29His
- rs150051278
- ClinGen CA398535362
- ClinVar RCV001220594
- ClinVar RCV002447108
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)