Variant: rs1060499781 

    present in Gene: CEP290
    present in Chromosome: 12
    Position on Chromosome: 88058846
    Alleles of this Variant: -/CC

rs1060499781 in CEP290 gene and Familial aplasia of the vermis PMID 17345604 2007 Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

PMID 16909394 2006 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

rs1060499781 in CEP290 gene and Meckel-Gruber syndrome PMID 17345604 2007 Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

PMID 16909394 2006 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

rs1060499781 in CEP290 gene and Nephronophthisis PMID 16909394 2006 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

PMID 17345604 2007 Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.