POLD1 Chromosome 19

DNA polymerase delta 1, catalytic subunit
437 variants 437 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
DNA polymerases
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000062822
Associated Conditions (21)
Colorectal cancer
susceptibility to
10
Hereditary cancer-predisposing syndrome
Familial colorectal cancer
Mandibular hypoplasia-deafness-progeroid syndrome
Immunodeficiency 120
POLD1-related disorder
Combined immunodeficiency
Micrognathia
Hereditary cancer
Familial colorectal cancer type X
Polymerase proofreading-related adenomatous polyposis
Malignant tumor of breast
Carcinoma of colon
Endometrial carcinoma
Uterine corpus endometrial carcinoma
Neoplasm
Intellectual disability
Carcinoma of pancreas
+1 more conditions
Key Variants
RS1021342807
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1027677934
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1028335528
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1031292934
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1032313424
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1038164521
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1040524947
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1057119431
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
Health Risk
RS1057521166
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
Health Risk
RS1057521291
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057521374
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
RS1057522005
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 10
Health Risk
All Variants (437)
RSID Category Clinical Significance Conditions
RS145473716 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1457064979 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS146344351 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1469052163 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS146960286 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1471359934 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS147911699 Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Colorectal cancer, susceptibility to
RS1479865221 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS148040399 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1489140479 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS149569984 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS150010804 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS150066950 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS150607556 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555789086 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555789124 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555789135 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555789811 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555789901 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555789928 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555789938 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555790184 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555790406 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555790429 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555790466 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1555790553 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555790554 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555791320 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1555792020 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1555792887 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555793039 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1555793490 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1568626490 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1568630035 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1568630225 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1568630477 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1568637783 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1568639764 Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer, Hereditary cancer-predisposing syndrome, Familial colorectal cancer
RS1601188789 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1601189629 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1601201552 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1601202006 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1601202545 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1601204455 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1601204466 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1601205954 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1601214948 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1601215588 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1601219069 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1601220977 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
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