rs779418268

This variant is located in the POLD1 gene.

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ClinVar annotation

Conflicting Classifications
3 submitters1 publication

Colorectal cancer, susceptibility to, 10; not provided; Hereditary cancer-predisposing syndrome

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About POLD1

This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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