Variant: rs113624356 

    present in Gene: BBS1;ZDHHC24
    present in Chromosome: 11
    Position on Chromosome: 66526181
    Alleles of this Variant: T/G

rs113624356 in BBS1;ZDHHC24 gene and Bardet-Biedl Syndrome PMID 15314642 2004 Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

PMID 12524598 2003 Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

PMID 12837689 2003 Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 23143442 2012 In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carried the p.M390R variant.

PMID 18766993 2008 Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.

PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PMID 18669544 2009 A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.

PMID 12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 22940089 2012 Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

PMID 17980398 2008 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

PMID 22581970 2012 A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

PMID 18032602 2007 A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

rs113624356 in BBS1;ZDHHC24 gene and Bardet-Biedl syndrome 1 (disorder) PMID 18032602 2007 A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PMID 12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

PMID 23565731 2013 Choroidal neovascularization in Bardet-Biedl syndrome.

PMID 22940089 2012 Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

PMID 21052717 2011 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

PMID 23943788 2014 BBS mutations modify phenotypic expression of CEP290-related ciliopathies.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 12524598 2003 Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

PMID 23143442 2012 BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

PMID 22581970 2012 A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

rs113624356 in BBS1;ZDHHC24 gene and Retinal Dystrophies PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

PMID 12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

rs113624356 in BBS1;ZDHHC24 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

rs113624356 in BBS1;ZDHHC24 gene and Usher Syndrome PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.