Variant: rs62635288 

    present in Gene: CEP290;TMTC3
    present in Chromosome: 12
    Position on Chromosome: 88141287
    Alleles of this Variant: C/A

rs62635288 in CEP290;TMTC3 gene and JOUBERT SYNDROME 5 PMID 16682970 2006 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

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

PMID 26166481 2015 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

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

PMID 26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

rs62635288 in CEP290;TMTC3 gene and Leber Congenital Amaurosis PMID 16682970 2006 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

rs62635288 in CEP290;TMTC3 gene and SENIOR-LOKEN SYNDROME 6 PMID 20683928 2010 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.