rs573286497

This variant is located in the CTC1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Dyskeratosis congenita

About CTC1

This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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