S38T (p.Ser38Thr) variant of FLCN (Folliculin)
S38T (p.Ser38Thr) 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.
S38T (p.Ser38Thr) variant details
- p.Ser38Thr
- rs139418842
- ClinGen CA398535303
- ClinVar RCV003461590
- ESP rs139418842
- Uncertain significance
- Birt-Hogg-Dube syndrome
- Missense
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome)
- EBI: Benign
- UniProt: 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)