M1T (p.Met1Thr) variant of FLCN (Folliculin)
M1T (p.Met1Thr) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Birt-Hogg-Dube syndrome. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2544315808
- ClinGen CA398535535
- ClinVar RCV002790426
- Pathogenic
- Birt-Hogg-Dube syndrome
- Missense
- ClinVar: 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)