UROC1
urocanate hydratase 1
Summary
This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021]
Known Variants126 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199712731 | 3:126,201,221 | G/T | — | uncertain significance |
| rs145891023 | 3:126,201,278 | G/A | — | likely benign |
| rs149008130 | 3:126,201,291 | T/C | — | likely benign |
| rs576157581 | 3:126,201,319 | G/A | — | uncertain significance |
| rs374958655 | 3:126,201,321 | C/T | — | uncertain significance |
| rs368628878 | 3:126,202,216 | T/C | — | uncertain significance |
| rs747452050 | 3:126,202,256 | C/T | — | uncertain significance |
| rs1687477 | 3:126,202,257 | A/G | — | benign |
| rs540556859 | 3:126,202,264 | G/A | — | uncertain significance |
| rs545914298 | 3:126,202,272 | G/A | — | likely benign |
| rs750142445 | 3:126,202,287 | G/A | — | likely benign |
| rs772674470 | 3:126,202,290 | T/C | — | likely benign |
| rs145069129 | 3:126,202,295 | C/T | — | uncertain significance |
| rs896881301 | 3:126,202,319 | A/C | — | likely benign |
| rs150770424 | 3:126,207,048 | C/T | — | uncertain significance |
| rs139120643 | 3:126,207,049 | G/A | — | likely benign |
| rs149541232 | 3:126,207,058 | G/A | — | likely benign |
| rs557538772 | 3:126,207,085 | G/A | — | likely benign |
| rs773916999 | 3:126,207,102 | C/T | — | uncertain significance |
| rs754960394 | 3:126,207,126 | C/T | — | likely benign |
| rs376757323 | 3:126,207,127 | G/A | — | uncertain significance |
| rs1208090936 | 3:126,208,124 | C/T | — | uncertain significance |
| rs144114875 | 3:126,208,137 | C/T | — | uncertain significance |
| rs1363966368 | 3:126,208,151 | G/T | — | uncertain significance |
| rs150326122 | 3:126,208,174 | G/A | — | benign |
| rs368108422 | 3:126,208,181 | C/T | — | uncertain significance |
| rs199637482 | 3:126,208,186 | G/A | — | likely benign |
| rs376841069 | 3:126,208,214 | G/A | — | uncertain significance |
| rs777479 | 3:126,208,249 | C/A | — | benign |
| rs35516512 | 3:126,211,278 | C/T | — | conflicting classifications of pathogenicity |
| rs777474 | 3:126,211,282 | G/A | — | benign |
| rs201269614 | 3:126,211,314 | G/A | — | uncertain significance |
| rs116286432 | 3:126,211,365 | G/A | — | benign |
| rs56681725 | 3:126,211,367 | G/A | — | benign |
| rs773878271 | 3:126,211,369 | G/A | — | likely benign |
| rs748680790 | 3:126,214,895 | C/T | — | uncertain significance |
| rs771307682 | 3:126,214,899 | C/A | — | uncertain significance |
| rs75603988 | 3:126,214,903 | C/T | — | benign |
| rs762927115 | 3:126,214,912 | C/T | — | uncertain significance |
| rs377549414 | 3:126,214,918 | T/C | — | uncertain significance |
| rs759882583 | 3:126,214,922 | C/T | — | uncertain significance |
| rs750847739 | 3:126,214,940 | C/T | — | uncertain significance |
| rs2473355329 | 3:126,214,945 | A/G | — | likely benign |
| rs1195966559 | 3:126,214,947 | C/T | — | likely benign |
| rs750652507 | 3:126,216,905 | A/G | — | uncertain significance |
| rs115626501 | 3:126,216,925 | T/C | — | benign |
| rs778885525 | 3:126,216,929 | G/A | — | uncertain significance |
| rs148955397 | 3:126,216,967 | C/T | — | likely benign |
| rs137852795 | 3:126,216,984 | G/A | missense variant | pathogenic |
| rs148040497 | 3:126,218,196 | C/T | — | uncertain significance |
| rs765456633 | 3:126,218,198 | T/C | — | uncertain significance |
| rs1407097136 | 3:126,218,205 | G/C | — | uncertain significance |
| rs201724997 | 3:126,218,210 | C/T | — | uncertain significance |
| rs9871671 | 3:126,218,211 | G/A | — | benign |
| rs757679109 | 3:126,218,237 | T/C | — | uncertain significance |
| rs138921339 | 3:126,218,249 | G/A | — | uncertain significance |
| rs147353570 | 3:126,218,934 | G/A | — | likely benign |
| rs2473363598 | 3:126,218,937 | G/C | — | uncertain significance |
| rs547424830 | 3:126,218,960 | C/T | — | likely benign |
| rs13072404 | 3:126,219,030 | T/C | — | benign |
| rs754346491 | 3:126,219,597 | C/T | — | likely benign |
| rs149908649 | 3:126,219,598 | G/A | — | uncertain significance |
| rs2473364821 | 3:126,219,616 | G/A | — | uncertain significance |
| rs34025926 | 3:126,219,627 | G/A | — | benign |
| rs767033814 | 3:126,219,660 | T/A | — | likely benign |
| rs765847764 | 3:126,219,687 | C/T | — | likely benign |
| rs745678535 | 3:126,219,702 | G/A | — | likely benign |
| rs377309471 | 3:126,219,713 | G/A | — | conflicting classifications of pathogenicity |
| rs1935915328 | 3:126,220,118 | G/T | — | uncertain significance |
| rs752566871 | 3:126,220,152 | C/T | — | likely benign |
| rs372066284 | 3:126,220,751 | C/T | — | likely benign |
| rs372290750 | 3:126,222,857 | G/A | — | uncertain significance |
| rs781621925 | 3:126,222,885 | C/T | — | pathogenic |
| rs202232611 | 3:126,222,886 | C/T | — | conflicting classifications of pathogenicity |
| rs367879924 | 3:126,222,901 | C/A | — | uncertain significance |
| rs373322766 | 3:126,222,902 | G/A | — | uncertain significance |
| rs200233135 | 3:126,224,550 | T/C | — | uncertain significance |
| rs555215796 | 3:126,224,571 | G/A | — | likely benign |
| rs537407699 | 3:126,224,585 | T/C | — | uncertain significance |
| rs745450704 | 3:126,224,586 | G/A | — | likely benign |
| rs140432607 | 3:126,224,606 | C/T | — | uncertain significance |
| rs760879046 | 3:126,224,609 | C/T | — | uncertain significance |
| rs1306512121 | 3:126,224,620 | G/A | — | uncertain significance |
| rs1005222752 | 3:126,224,630 | C/A | — | uncertain significance |
| rs150437149 | 3:126,224,648 | C/G | — | conflicting classifications of pathogenicity |
| rs781249685 | 3:126,224,665 | C/T | — | uncertain significance |
| rs762189470 | 3:126,224,681 | C/T | — | uncertain significance |
| rs770430493 | 3:126,224,790 | C/G | — | uncertain significance |
| rs377594542 | 3:126,224,802 | C/T | — | uncertain significance |
| rs751617501 | 3:126,224,817 | C/T | — | uncertain significance |
| rs767668365 | 3:126,224,820 | T/A | — | uncertain significance |
| rs899567669 | 3:126,224,842 | C/G | — | uncertain significance |
| rs138206716 | 3:126,224,849 | C/T | — | likely benign |
| rs778320185 | 3:126,224,850 | C/T | — | uncertain significance |
| rs149096963 | 3:126,224,851 | G/A | — | likely benign |
| rs1010838044 | 3:126,226,613 | C/T | — | uncertain significance |
| rs145948028 | 3:126,226,621 | G/A | — | likely benign |
| rs143782037 | 3:126,226,624 | C/T | — | likely benign |
| rs34488036 | 3:126,226,625 | G/A | — | likely benign |
| rs778188768 | 3:126,226,843 | G/A | — | likely benign |
Showing 100 of 126 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.