Variant: rs549625604 

    present in Gene: BBS10
    present in Chromosome: 12
    Position on Chromosome: 76347713
    Alleles of this Variant: -/A

rs549625604 in BBS10 gene and BARDET-BIEDL SYNDROME 10 PMID 24400638 2015 Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

PMID 24746959 2014 Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

PMID 27385962 2016 Bardet-Biedl Syndrome.

PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

rs549625604 in BBS10 gene and Bardet-Biedl Syndrome PMID 27385962 2016 Bardet-Biedl Syndrome.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

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

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

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

rs549625604 in BBS10 gene and Muscle hypotonia PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 10874630 1999 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

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

PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PMID 20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PMID 11179009 2001 Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

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

PMID 16823392 2006 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

PMID 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

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

PMID 22713813 2013 Bardet-Biedl syndrome.

PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

rs549625604 in BBS10 gene and Overgrowth PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

PMID 22713813 2013 Bardet-Biedl syndrome.

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

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

PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

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

PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

PMID 20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 10874630 1999 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

PMID 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PMID 16823392 2006 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

PMID 11179009 2001 Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

rs549625604 in BBS10 gene and Retinitis Pigmentosa PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.