Variant: rs386834158 

    present in Gene: CEP290
    present in Chromosome: 12
    Position on Chromosome: 88077790
    Alleles of this Variant: T/-

rs386834158 in CEP290 gene and Familial aplasia of the vermis PMID 20683928 2010 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

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.

rs386834158 in CEP290 gene and Meckel-Gruber syndrome PMID 20683928 2010 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

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.

rs386834158 in CEP290 gene and Nephronophthisis PMID 20683928 2010 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

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.

rs386834158 in CEP290 gene and Retinal Dystrophies PMID 17564967 2007 CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.