Variant: rs199473674 

    present in Gene: CTC1
    present in Chromosome: 17
    Position on Chromosome: 8237440
    Alleles of this Variant: TTCT/-

rs199473674 in CTC1 gene and CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 PMID 22267198 2012 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

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 22899577 2013 Mutations in the telomere capping complex in bone marrow failure and related syndromes.

PMID 22532422 2012 CTC1 Mutations in a patient with dyskeratosis congenita.

rs199473674 in CTC1 gene and Dyskeratosis Congenita PMID 22532422 2012 CTC1 Mutations in a patient with dyskeratosis congenita.

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

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

PMID 22899577 2013 Mutations in the telomere capping complex in bone marrow failure and related syndromes.

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