POLD1 Chromosome 19

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

Upload your DNA to see your personal genotypes for variants in POLD1.

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
RS867074778 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS878854522 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS878854525 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS878854526 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS878854529 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS878854530 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS878854534 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS878854539 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS878854541 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS878854557 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS879254134 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS891420901 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS892295785 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS897166414 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS897259743 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS910905700 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS914238978 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS9282830 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS940296193 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS946088822 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS947109063 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS947583054 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS960226186 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS960420023 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS963136799 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS969950434 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS975951740 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS983274157 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS986822818 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS993539085 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS997563069 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS2122521078 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS878854523 Health Risk Likely pathogenic Colorectal cancer, susceptibility to, 10
RS2122507340 Health Risk Pathogenic Carcinoma of pancreas, Carcinoma of pancreas
RS398122386 Health Risk Pathogenic Mandibular hypoplasia-deafness-progeroid syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer
RS397514632 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, susceptibility to, 10
RS587777627 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, susceptibility to, 10
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