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
RS1247893374 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1249502531 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1255892076 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1256482040 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1273286625 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1274728448 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1278597997 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1289561228 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1292667374 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1307047144 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1315638826 Health Risk Conflicting classifications of pathogenicity Mandibular hypoplasia-deafness-progeroid syndrome, Micrognathia, Hereditary cancer-predisposing syndrome
RS1328053279 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1334973313 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1348218790 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1354252782 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1356081968 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1362844961 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1368414810 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1368969207 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1374129343 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1384806459 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1388274211 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1389018181 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1390351117 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS139557851 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1400257948 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer, susceptibility to
RS1401103913 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1406934577 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS140707092 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1409026154 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1410754292 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS141319800 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1415038504 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS141801845 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1419541816 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS141976385 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1420038281 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS142223599 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1426253750 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1426325954 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS143076166 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1436409342 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1440946792 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS144143245 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1443432312 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1445817375 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS144707871 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS144770820 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS144979965 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
RS1452632059 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to, 10
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