H255Y (p.His255Tyr) variant of FLCN (Folliculin)
H255Y (p.His255Tyr) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Birt-Hogg-Dube syndrome. The record also includes published literature and structural context.
H255Y (p.His255Tyr) variant details
- p.His255Tyr
- rs879255664
- ClinGen CA10586267
- ClinVar RCV000239703
- ClinVar RCV000489495
- Likely pathogenic
- Birt-Hogg-Dube syndrome
- Missense
- ClinVar: Likely pathogenic (Birt-Hogg-Dube syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)