TRNT1
tRNA nucleotidyl transferase 1
Summary
The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Known Variants442 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs115030326 | 3:3,168,525 | C/T | — | likely benign |
| rs377373789 | 3:3,168,559 | T/C | — | benign |
| rs79952004 | 3:3,168,585 | C/T | — | benign |
| rs116700990 | 3:3,168,626 | C/A | — | benign |
| rs772459462 | 3:3,168,652 | C/T | — | likely benign |
| rs1057523189 | 3:3,168,655 | C/T | — | likely benign |
| rs1553550668 | 3:3,168,669 | G/A | — | likely benign |
| rs1553550677 | 3:3,168,683 | G/A | — | likely benign |
| rs561212352 | 3:3,168,684 | C/G | — | likely benign |
| rs906898781 | 3:3,168,691 | C/G | — | likely benign |
| rs114580856 | 3:3,168,772 | C/A | — | benign |
| rs334774 | 3:3,170,409 | G/C | — | benign |
| rs111585267 | 3:3,170,630 | C/T | — | likely benign |
| rs186544049 | 3:3,170,631 | C/G | — | benign |
| rs146036551 | 3:3,170,678 | C/G | — | likely benign |
| rs1575035124 | 3:3,170,685 | A/T | — | likely benign |
| rs112624983 | 3:3,170,702 | G/A | — | likely benign |
| rs779568831 | 3:3,170,725 | A/G | — | uncertain significance |
| rs559472880 | 3:3,170,728 | C/T | — | likely benign |
| rs1000716506 | 3:3,170,736 | C/T | — | uncertain significance |
| rs1704811471 | 3:3,170,739 | G/A | — | likely benign |
| rs776254990 | 3:3,170,751 | C/G | — | uncertain significance |
| rs769556416 | 3:3,170,755 | C/G | — | uncertain significance |
| rs1704814779 | 3:3,170,760 | G/A | — | likely benign |
| rs762748487 | 3:3,170,762 | T/C | — | uncertain significance |
| rs766234875 | 3:3,170,767 | C/T | — | uncertain significance |
| rs759180902 | 3:3,170,769 | T/C | — | likely benign |
| rs774300649 | 3:3,170,778 | T/C | — | likely benign |
| rs1704816332 | 3:3,170,783 | T/C | — | uncertain significance |
| rs2126002041 | 3:3,170,784 | G/T | — | likely benign |
| rs1307913419 | 3:3,170,787 | C/T | — | likely benign |
| rs965646183 | 3:3,170,788 | C/T | — | uncertain significance |
| rs191706901 | 3:3,170,789 | T/G | — | uncertain significance |
| rs183596892 | 3:3,170,791 | C/G | — | benign |
| rs334773 | 3:3,170,792 | C/T | — | benign |
| rs1415152805 | 3:3,170,797 | C/T | — | pathogenic |
| rs764391872 | 3:3,170,798 | A/C | — | uncertain significance |
| rs754086954 | 3:3,170,799 | G/T | — | uncertain significance |
| rs779515627 | 3:3,170,803 | C/G | — | uncertain significance |
| rs1704821079 | 3:3,170,805 | A/T | — | likely benign |
| rs375274931 | 3:3,170,812 | A/G | — | uncertain significance |
| rs141005872 | 3:3,170,817 | G/A | — | likely benign |
| rs368274081 | 3:3,170,829 | C/T | — | likely benign |
| rs1480255948 | 3:3,170,830 | G/A | — | uncertain significance |
| rs138682354 | 3:3,170,831 | A/T | — | uncertain significance |
| rs1704825513 | 3:3,170,836 | C/G | — | uncertain significance |
| rs2126002222 | 3:3,170,838 | G/C | — | uncertain significance |
| rs908960894 | 3:3,170,842 | C/G | — | uncertain significance |
| rs772110156 | 3:3,170,844 | T/G | — | likely benign |
| rs75033443 | 3:3,170,857 | C/T | — | benign |
| rs1704830773 | 3:3,170,869 | A/G | — | uncertain significance |
| rs1575035691 | 3:3,170,875 | G/A | — | uncertain significance |
| rs917596740 | 3:3,170,879 | G/A | — | likely benign |
| rs1342768108 | 3:3,170,884 | G/A | — | likely benign |
| rs374743708 | 3:3,170,886 | A/G | — | likely benign |
| rs2126002342 | 3:3,170,887 | T/C | — | likely benign |
| rs200220844 | 3:3,170,889 | C/T | — | likely benign |
| rs149557691 | 3:3,170,900 | T/C | — | benign |
| rs202044997 | 3:3,170,908 | C/T | — | likely benign |
| rs334772 | 3:3,170,910 | A/G | — | benign |
| rs4684375 | 3:3,170,966 | T/C | — | benign |
| rs79903306 | 3:3,171,005 | G/A | — | likely benign |
| rs3762759 | 3:3,171,022 | C/T | — | benign |
| rs334771 | 3:3,171,023 | A/G | — | benign |
| rs148742370 | 3:3,171,081 | G/A | — | benign |
| rs334770 | 3:3,171,125 | G/A | — | benign |
| rs334768 | 3:3,171,502 | C/A | — | benign |
| rs148068070 | 3:3,176,627 | G/T | intron variant | — |
| rs114645157 | 3:3,178,764 | C/T | — | likely benign |
| rs115305185 | 3:3,178,773 | A/G | — | likely benign |
| rs3762748 | 3:3,178,925 | T/G | — | likely benign |
| rs766739333 | 3:3,178,928 | T/C | — | likely benign |
| rs1247543296 | 3:3,178,934 | C/G | — | likely benign |
| rs1705382741 | 3:3,178,935 | T/C | — | likely benign |
| rs200056840 | 3:3,178,939 | C/T | — | conflicting classifications of pathogenicity |
| rs2471280337 | 3:3,178,946 | T/A | — | uncertain significance |
| rs1705383984 | 3:3,178,950 | T/C | — | uncertain significance |
| rs2471280366 | 3:3,178,955 | A/G | — | uncertain significance |
| rs1705384658 | 3:3,178,960 | G/T | — | uncertain significance |
| rs2471280449 | 3:3,178,963 | T/C | — | likely benign |
| rs1488255780 | 3:3,178,965 | A/G | — | uncertain significance |
| rs760080058 | 3:3,178,966 | C/A | — | uncertain significance |
| rs768028459 | 3:3,178,967 | G/A | — | uncertain significance |
| rs1283386278 | 3:3,178,974 | G/T | — | uncertain significance |
| rs2126017364 | 3:3,178,977 | T/G | — | uncertain significance |
| rs150902982 | 3:3,178,979 | G/T | — | uncertain significance |
| rs1430870230 | 3:3,178,980 | C/G | — | uncertain significance |
| rs1354319879 | 3:3,178,988 | G/C | — | uncertain significance |
| rs2126017403 | 3:3,178,993 | G/A | — | likely benign |
| rs1705387323 | 3:3,179,003 | T/G | — | uncertain significance |
| rs750056889 | 3:3,179,005 | A/C | — | uncertain significance |
| rs758026798 | 3:3,179,007 | A/G | — | uncertain significance |
| rs1267775202 | 3:3,179,010 | G/C | — | uncertain significance |
| rs1243707005 | 3:3,179,017 | G/A | — | likely benign |
| rs114362638 | 3:3,179,026 | T/C | — | likely benign |
| rs1553553306 | 3:3,179,028 | T/C | — | uncertain significance |
| rs2126017445 | 3:3,179,029 | A/G | — | uncertain significance |
| rs781277263 | 3:3,179,045 | G/C | — | uncertain significance |
| rs976462533 | 3:3,179,046 | C/G | — | uncertain significance |
| rs1705391391 | 3:3,179,050 | C/G | — | uncertain significance |
Showing 100 of 442 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.