FLCN Chromosome 17
Folliculin
Upload your DNA to see your personal genotypes for variants in FLCN.
What This Gene Does
This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DENN domain containing
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000154803
Associated Conditions (28)
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Familial spontaneous pneumothorax
17p11.2 microduplication syndrome
Nonpapillary renal cell carcinoma
FLCN-related disorder
See cases
Ovarian cancer
Carcinoma of colon
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Colon adenocarcinoma
Pneumothorax - familial
Pilocytic astrocytoma
Chromophobe renal cell carcinoma
+8 more conditions
Key Variants
RS1010980331
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
Health Risk
RS1025567379
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1
Health Risk
RS1040675580
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer
Health Risk
RS1050188504
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060502374
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
Health Risk
RS1060504593
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1
Health Risk
RS1064793127
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
Health Risk
RS117436649
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
Health Risk
RS1180118315
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, FLCN-related disorder
Health Risk
RS1198336361
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Colorectal cancer, Birt-Hogg-Dube syndrome 1
Health Risk
RS1200932753
Conflicting classifications of pathogenicity
Birt-Hogg-Dube syndrome, See cases, Birt-Hogg-Dube syndrome 1
Health Risk
RS1206559440
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (552)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2144931222 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144931929 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144932834 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144933364 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144947980 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144948439 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144952338 | Health Risk | Pathogenic | — |
| RS2144971536 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144979340 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144981510 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2144981673 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2144983515 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2144983543 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS2145010299 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2145011802 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2145012125 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2145012275 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2145048688 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2145049426 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1 |
| RS2544123822 | Health Risk | Pathogenic | — |
| RS2544123901 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544125336 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544126103 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544140967 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544141326 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544141440 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544142899 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544143046 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS2544145738 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544145845 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1, Hereditary cancer-predisposing syndrome |
| RS2544145930 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS2544147093 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544148536 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544148797 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544160435 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544160911 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544161026 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544161279 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544161621 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544161667 | Health Risk | Pathogenic | Chromophobe renal cell carcinoma, Chromophobe renal cell carcinoma |
| RS2544161792 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544162203 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544174399 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544193577 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544193597 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544193658 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544193930 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544194010 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544194280 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544194629 | Health Risk | Pathogenic | Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |