POLH Chromosome 6
DNA polymerase eta
Upload your DNA to see your personal genotypes for variants in POLH.
What This Gene Does
This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
Gene Info
Gene Group
"DNA polymerases|Xeroderma pigmentosum complementation groups|Zinc fingers UBZ3 CCHH-type"
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000170734
Associated Conditions (9)
Xeroderma pigmentosum variant type
Xeroderma pigmentosum
POLH-related disorder
Inborn genetic diseases
Malignant lymphoma
large B-cell
diffuse
See cases
Hepatocellular carcinoma
Key Variants
RS140331414
Conflicting classifications of pathogenicity
Xeroderma pigmentosum variant type, Xeroderma pigmentosum, Xeroderma pigmentosum variant type
Health Risk
RS142864589
Conflicting classifications of pathogenicity
Xeroderma pigmentosum variant type, Xeroderma pigmentosum, Xeroderma pigmentosum variant type
Health Risk
RS1449546916
Conflicting classifications of pathogenicity
Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
Health Risk
RS145530456
Conflicting classifications of pathogenicity
Xeroderma pigmentosum variant type, Xeroderma pigmentosum, Xeroderma pigmentosum variant type
Health Risk
RS147564503
Conflicting classifications of pathogenicity
Health Risk
RS147712217
Conflicting classifications of pathogenicity
Xeroderma pigmentosum variant type, Xeroderma pigmentosum, Xeroderma pigmentosum variant type
Health Risk
RS150901869
Conflicting classifications of pathogenicity
Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
Health Risk
RS151095678
Conflicting classifications of pathogenicity
Xeroderma pigmentosum variant type, Xeroderma pigmentosum, POLH-related disorder
Health Risk
RS185508862
Conflicting classifications of pathogenicity
Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
Health Risk
RS189022924
Conflicting classifications of pathogenicity
Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
Health Risk
RS199562456
Conflicting classifications of pathogenicity
Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
Health Risk
RS199840329
Conflicting classifications of pathogenicity
Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140331414 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum, Xeroderma pigmentosum variant type |
| RS142864589 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum, Xeroderma pigmentosum variant type |
| RS1449546916 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS145530456 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum, Xeroderma pigmentosum variant type |
| RS147564503 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147712217 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum, Xeroderma pigmentosum variant type |
| RS150901869 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS151095678 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum, POLH-related disorder |
| RS185508862 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS189022924 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS199562456 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS199840329 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS200438344 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Inborn genetic diseases, Xeroderma pigmentosum |
| RS200496091 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377690160 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Malignant lymphoma, large B-cell |
| RS569809153 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61756403 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS746206386 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS747834463 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum, Xeroderma pigmentosum variant type, Xeroderma pigmentosum |
| RS765856970 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS9333548 | Health Risk | Conflicting classifications of pathogenicity | Xeroderma pigmentosum variant type, Xeroderma pigmentosum, POLH-related disorder |
| RS1260938579 | Health Risk | Likely pathogenic | — |
| RS1478721850 | Health Risk | Likely pathogenic | — |
| RS1767008778 | Health Risk | Likely pathogenic | — |
| RS2127821940 | Health Risk | Likely pathogenic | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS760104150 | Health Risk | Likely pathogenic | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS1176350430 | Health Risk | Pathogenic | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS121908562 | Health Risk | Pathogenic | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS121908563 | Health Risk | Pathogenic | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS121908564 | Health Risk | Pathogenic | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS1277794845 | Health Risk | Pathogenic | Xeroderma pigmentosum, Xeroderma pigmentosum |
| RS1308019449 | Health Risk | Pathogenic | — |
| RS1395523441 | Health Risk | Pathogenic | — |
| RS1396889047 | Health Risk | Pathogenic | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS1426687865 | Health Risk | Pathogenic | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS1461960812 | Health Risk | Pathogenic | — |
| RS1480661335 | Health Risk | Pathogenic | — |
| RS1554140189 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554141842 | Health Risk | Pathogenic | — |
| RS1582297122 | Health Risk | Pathogenic | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS1767079240 | Health Risk | Pathogenic | — |
| RS190423114 | Health Risk | Pathogenic | — |
| RS2127773120 | Health Risk | Pathogenic | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS2127773185 | Health Risk | Pathogenic | Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type |
| RS2532345521 | Health Risk | Pathogenic | — |
| RS2532368252 | Health Risk | Pathogenic | — |
| RS2532368451 | Health Risk | Pathogenic | — |
| RS2532368603 | Health Risk | Pathogenic | — |
| RS2532465562 | Health Risk | Pathogenic | — |
| RS2532470049 | Health Risk | Pathogenic | — |