Variant: rs386834152 

    present in Gene: CEP290
    present in Chromosome: 12
    Position on Chromosome: 88114488
    Alleles of this Variant: G/A

rs386834152 in CEP290 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs386834152 in CEP290 gene and JOUBERT SYNDROME 5 PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs386834152 in CEP290 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs386834152 in CEP290 gene and Meckel-Gruber syndrome PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs386834152 in CEP290 gene and Nephronophthisis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs386834152 in CEP290 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.