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
RS1021342807 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1027677934 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1028335528 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1031292934 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1032313424 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1038164521 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1040524947 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1057119431 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1057521166 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1057521291 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057521374 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1057522005 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1057522577 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1057522764 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1057523464 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1060501816 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1060501819 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1060501824 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1060501840 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1060501843 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1060501844 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1060501851 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1060501853 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1060501854 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1060501857 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1060501858 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1060504345 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1060504365 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1064792944 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1064794332 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1064795184 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1064795361 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1064795639 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1158003090 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1161281976 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1174011798 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1178367942 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1180107064 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1189529370 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1197236198 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1200514497 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1210212980 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1213970824 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1224431670 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1225289450 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1227560475 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1231801192 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1231856737 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1236887089 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1236954722 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
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