Variant: rs758550675 

    present in Gene: TMTC3;CEP290
    present in Chromosome: 12
    Position on Chromosome: 88140969
    Alleles of this Variant: GAGT/-

rs758550675 in TMTC3;CEP290 gene and JOUBERT SYNDROME 5 PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.