Variant: rs199473677 

    present in Gene: CTC1
    present in Chromosome: 17
    Position on Chromosome: 8230396
    Alleles of this Variant: G/-;GG

rs199473677 in CTC1 gene and CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) PMID 22387016 2012 Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

PMID 23869908 2013 Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.

PMID 25182133 2015 Clinical utility gene card for: Dyskeratosis congenita - update 2015.

PMID 22267198 2012 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

rs199473677 in CTC1 gene and Dyskeratosis Congenita PMID 23869908 2013 Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.

PMID 22387016 2012 Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.