FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
Disease: Adenocarcinoma, Clear Cell ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141303532
rs141303532
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0206681
Disease:
Adenocarcinoma, Clear Cell 		0.010 GeneticVariation BEFREE Additional molecular genetic testing revealed somatic mutations and epigenetic events in genes typically associated with these specific histologic tumor types: oncocytoma harbored a second FLCN mutation (intron 12, IVS12+4 C>T), oncocytic papillary carcinoma harbored promoter methylation of FLCN, and a missense mutation in the MET gene (P246L), whereas clear cell carcinoma harbored inactivating VHL mutation (5-base pair deletion in exon 2) and VHL gene promoter methylation. 19733897 2009