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
RS1601243241 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1601246415 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS199545019 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS199733325 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS199783227 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS199792522 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS199993010 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS199999050 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS200072694 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS200144991 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS200576676 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS200736325 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS200931999 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS201050276 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS201187429 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS201654210 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS202035484 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS2038469040 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2038641578 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2038649365 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2038665417 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS2038667190 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2038674221 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2038687584 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2038700262 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2038702963 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2038731369 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2038744386 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2038884150 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2038922133 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2038987366 Health Risk Conflicting classifications of pathogenicity POLD1-related disorder, POLD1-related disorder
RS2039243107 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2039246253 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2039265074 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2039327767 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2039335473 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2039339156 Health Risk Conflicting classifications of pathogenicity Mandibular hypoplasia-deafness-progeroid syndrome, Mandibular hypoplasia-deafness-progeroid syndrome
RS2122197253 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2122202540 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2122203804 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS2122232591 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS2122232967 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2122243742 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2122315641 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2122322383 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2122328682 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2122344493 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2122389370 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS2122437453 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS2122474072 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
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