Variant: rs137852929 

    present in Gene: FLCN;MPRIP
    present in Chromosome: 17
    Position on Chromosome: 17215228
    Alleles of this Variant: G/A;C;T

rs137852929 in FLCN;MPRIP gene and Multiple fibrofolliculomas PMID 12204536 2002 Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.

PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 18234728 2008 BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

rs137852929 in FLCN;MPRIP gene and Neoplastic Syndromes, Hereditary PMID 23784378 2013 Birt-Hogg-Dube syndrome is a novel ciliopathy.

PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 12204536 2002 Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.

PMID 18234728 2008 BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

rs137852929 in FLCN;MPRIP gene and PNEUMOTHORAX, PRIMARY SPONTANEOUS PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

PMID 23784378 2013 Birt-Hogg-Dube syndrome is a novel ciliopathy.

PMID 25126726 2014 FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation.