TOP1
DNA topoisomerase I
Summary
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4810309 | 20:39,665,750 | A/G | intron variant | — |
| rs6029526 | 20:39,672,618 | T/G | — | — |
| rs35905808 | 20:39,690,119 | G/A | — | benign |
| rs61756255 | 20:39,704,896 | C/T | — | benign |
| rs754130011 | 20:39,706,226 | G/A | — | uncertain significance |
| rs79779579 | 20:39,710,038 | T/A | — | — |
| rs149334682 | 20:39,713,122 | C/T | — | benign |
| rs2515425573 | 20:39,713,126 | A/C | — | uncertain significance |
| rs368613261 | 20:39,713,179 | G/A | — | likely benign |
| rs61756256 | 20:39,713,188 | A/G | — | benign |
| rs765942481 | 20:39,725,864 | A/C | — | uncertain significance |
| rs6029545 | 20:39,728,767 | G/A | — | benign |
| rs755415090 | 20:39,728,821 | C/T | — | likely benign |
| rs2034059953 | 20:39,729,902 | A/T | — | association |
| rs121434562 | 20:39,729,937 | G/A | missense variant | pathogenic |
| rs147984700 | 20:39,741,559 | C/T | — | likely benign |
| rs73611258 | 20:39,742,284 | A/G | intron variant | — |
| rs1449586268 | 20:39,742,700 | C/T | — | uncertain significance |
| rs267607131 | 20:39,742,755 | A/G | missense variant | pathogenic |
| rs6072275 | 20:39,743,905 | G/A | intron variant | — |
| rs267607132 | 20:39,744,958 | G/A | missense variant | no classification for the single variant |
| rs764208638 | 20:39,746,861 | T/C | — | likely benign |
| rs2515470189 | 20:39,746,868 | A/G | — | uncertain significance |
| rs550250396 | 20:39,750,425 | G/A | — | benign |
| rs2515475553 | 20:39,750,678 | G/A | — | uncertain significance |
| rs2515475561 | 20:39,750,683 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.