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FLCN folliculin

Gene ID: 201163, updated on 8-Feb-2020
Also known as: BHD; FLCL; DENND8B

Summary

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]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2016-11-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2016-11-10)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
17p11.2
Sequence:
Chromosome: 17; NC_000017.11 (17206946..17237188, complement)
Total number of exons:
18

Links

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