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Gene entry

CTC1

CST telomere replication complex component 1

Chromosome
17
Cytoband
17p13.1
Variants (rsID)
19

CTC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.1). Its official name is “CST telomere replication complex component 1”. The reference table lists 19 variants (rsID) for this gene.

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Clinically classified variants

16 reference-table entries with clinical significance.

  • rs183556317Benignsingle nucleotide variantDyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
  • rs188658691Benignsingle nucleotide variantDyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
  • rs3027245Benignsingle nucleotide variantDyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
  • rs3027247Benignsingle nucleotide variantDyskeratosis congenita
  • rs62624978Benignsingle nucleotide variantDyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
  • rs75503577Benignsingle nucleotide variantDyskeratosis congenita
  • rs78870822Benignsingle nucleotide variantDyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
  • rs147714487Conflicting interpretationssingle nucleotide variantDyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
  • rs200643329Conflicting interpretationssingle nucleotide variantDyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
  • rs199473674PathogenicDeletionCerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita
  • rs199473676Pathogenicsingle nucleotide variantCerebroretinal microangiopathy with calcifications and cysts 1
  • rs199473677PathogenicDeletionCerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita|Coats plus syndrome
  • rs199473679PathogenicMicrosatelliteCerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita|Coats plus syndrome
  • rs202138550Pathogenicsingle nucleotide variantCerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita
  • rs200137992Uncertain significancesingle nucleotide variantDyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
  • rs201879837Uncertain significancesingle nucleotide variantDyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.