Variant: rs137852832 

    present in Gene: CEP290
    present in Chromosome: 12
    Position on Chromosome: 88077263
    Alleles of this Variant: C/A

rs137852832 in CEP290 gene and Familial aplasia of the vermis PMID 21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

PMID 25818971 2016 Development of end-stage renal disease at a young age in two cases with Joubert syndrome.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 23954617 2013 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

PMID 22693042 2012 Molecular characterization of Joubert syndrome in Saudi Arabia.

PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

PMID 22355252 2012 Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 21245082 2011 Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

PMID 16682973 2006 The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

PMID 16682970 2006 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

PMID 17564967 2007 CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

rs137852832 in CEP290 gene and JOUBERT SYNDROME 5 PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs137852832 in CEP290 gene and Meckel-Gruber syndrome PMID 22355252 2012 Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.

PMID 16682973 2006 The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

PMID 21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 23954617 2013 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

PMID 16682970 2006 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

PMID 25818971 2016 Development of end-stage renal disease at a young age in two cases with Joubert syndrome.

PMID 22693042 2012 Molecular characterization of Joubert syndrome in Saudi Arabia.

PMID 21245082 2011 Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

PMID 17564967 2007 CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

rs137852832 in CEP290 gene and Nephronophthisis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 22693042 2012 Molecular characterization of Joubert syndrome in Saudi Arabia.

PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

PMID 21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

PMID 22355252 2012 Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.

PMID 21245082 2011 Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

PMID 23954617 2013 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

PMID 17564967 2007 CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

PMID 16682970 2006 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

PMID 16682973 2006 The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

PMID 25818971 2016 Development of end-stage renal disease at a young age in two cases with Joubert syndrome.

rs137852832 in CEP290 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.