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
RS765969481 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS765981178 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS766158800 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS767410345 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS768048535 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS768082423 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS768642194 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS768773535 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS769650989 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS770407151 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS770660636 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS770762282 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS771346692 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS771349646 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS771734704 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS772130395 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS772197667 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS772468675 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS772953240 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS773826187 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS774030917 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS774130423 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS774283364 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS774568050 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS774789534 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS774993483 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS775119313 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS775285603 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS775363857 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS775717328 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS776167760 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS776293311 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS776773005 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS777866589 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS778275831 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS778329225 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS778838312 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS778843530 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS778972543 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS778990190 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS778993986 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS779097933 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS779418268 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS780604625 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS780749621 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS781327088 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS781682472 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS80214209 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS8105725 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS866494171 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
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