A45E (p.Ala45Glu) variant of FLCN (Folliculin)
A45E (p.Ala45Glu) 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; Hereditary cancer-predisposing syndrome. The record also includes population frequency data, published literature, and structural context.
A45E (p.Ala45Glu) variant details
- p.Ala45Glu
- rs556510460
- ClinGen CA398535258
- ClinVar RCV000791768
- ClinVar RCV001011021
- Uncertain significance
- Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- 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)