M1V (p.Met1Val) variant of FLCN (Folliculin)
M1V (p.Met1Val) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Birt-Hogg-Dube syndrome; Birt-Hogg-Dube syndrome 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2047316806
- ClinGen CA398535538
- ClinVar RCV001295990
- ClinVar RCV005601736
- Pathogenic/Likely pathogenic
- Birt-Hogg-Dube syndrome; Birt-Hogg-Dube syndrome 1
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Birt-Hogg-Dube syndrome; Birt-Hogg-Dube syndrome 1)
- 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)