D37G (p.Asp37Gly) variant of FLCN (Folliculin)
D37G (p.Asp37Gly) 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.
D37G (p.Asp37Gly) variant details
- p.Asp37Gly
- rs2145047013
- ClinGen CA398535311
- ClinVar RCV003054905
- ClinVar RCV003274163
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; 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)