Variant: rs758593134 

    present in Gene: TMTC3;CEP290
    present in Chromosome: 12
    Position on Chromosome: 88140955
    Alleles of this Variant: C/T

rs758593134 in TMTC3;CEP290 gene and Familial aplasia of the vermis PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

rs758593134 in TMTC3;CEP290 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs758593134 in TMTC3;CEP290 gene and Meckel-Gruber syndrome PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

rs758593134 in TMTC3;CEP290 gene and Nephronophthisis PMID 20690115 2010 CEP290, a gene with many faces: mutation overview and presentation of CEP290base.