S38N (p.Ser38Asn) variant of FLCN (Folliculin)
S38N (p.Ser38Asn) 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 structural context.
S38N (p.Ser38Asn) variant details
- p.Ser38Asn
- ESP rs139418842
- ExAC rs139418842
- TOPMed rs139418842
- gnomAD rs139418842
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available