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
RS753870010 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS754416243 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS754716741 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS754793514 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS754917939 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS755550936 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS756232002 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS756483178 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS756829126 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS757053149 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS757190258 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS757442072 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS757575448 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS757740787 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS758407212 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS758602573 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS759213871 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS759271754 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS759315897 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS759530743 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS759650325 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS759987234 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS760003191 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS760077781 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS760140187 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS760329559 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Colorectal cancer, susceptibility to
RS760616076 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS760638243 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS760884573 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS76131127 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS761355038 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS762113011 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS762155346 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS762280958 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS763747258 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS763850764 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS763951036 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS763969133 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS764023083 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS764156081 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS764364345 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS764432550 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS764785216 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS765079746 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS765185645 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS765276497 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS765390600 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS765437818 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS765448811 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS765678563 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
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