GATB
glutamyl-tRNA amidotransferase subunit B
Summary
Contributes to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 41. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants85 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4571 | 4:152,592,191 | C/T | — | benign |
| rs770581517 | 4:152,592,346 | C/T | — | uncertain significance |
| rs759877003 | 4:152,592,378 | C/T | — | uncertain significance |
| rs138666687 | 4:152,592,396 | C/T | — | uncertain significance |
| rs377007052 | 4:152,592,397 | G/A | — | uncertain significance |
| rs6535809 | 4:152,592,933 | A/T | — | — |
| rs2545930369 | 4:152,593,953 | C/A | — | uncertain significance |
| rs141777418 | 4:152,593,980 | T/A | — | uncertain significance |
| rs6813516 | 4:152,594,407 | C/T | — | — |
| rs375643617 | 4:152,601,024 | G/A | — | uncertain significance |
| rs907237 | 4:152,601,146 | T/G | — | benign |
| rs35804417 | 4:152,601,951 | G/A | downstream gene variant | — |
| rs6823423 | 4:152,604,723 | T/C | intron variant | — |
| rs4696105 | 4:152,606,702 | T/G | intron variant | — |
| rs80257651 | 4:152,609,556 | C/A | — | benign |
| rs6535814 | 4:152,609,694 | A/G | — | benign |
| rs6535815 | 4:152,609,700 | A/C | — | benign |
| rs75029272 | 4:152,609,784 | C/T | — | benign |
| rs62327344 | 4:152,609,826 | C/A | — | benign |
| rs3749561 | 4:152,610,117 | T/C | — | benign |
| rs9995704 | 4:152,619,069 | C/G | — | — |
| rs182921948 | 4:152,619,133 | A/G | intron variant | — |
| rs372583992 | 4:152,622,515 | T/G | — | uncertain significance |
| rs149796717 | 4:152,622,518 | T/A | — | uncertain significance |
| rs147915190 | 4:152,622,526 | A/G | — | likely benign |
| rs148150389 | 4:152,622,533 | T/C | — | benign |
| rs147735841 | 4:152,622,557 | G/A | — | uncertain significance |
| rs776470411 | 4:152,622,612 | C/T | — | uncertain significance |
| rs532325104 | 4:152,622,613 | G/A | — | likely benign |
| rs112654171 | 4:152,622,628 | G/T | — | likely benign |
| rs752997058 | 4:152,622,640 | C/G | — | likely benign |
| rs550878824 | 4:152,622,652 | G/C | — | uncertain significance |
| rs28706249 | 4:152,624,972 | A/G | — | benign |
| rs562483671 | 4:152,626,358 | C/T | — | uncertain significance |
| rs571950125 | 4:152,629,139 | C/T | — | uncertain significance |
| rs575592914 | 4:152,629,190 | C/T | — | uncertain significance |
| rs201205798 | 4:152,629,194 | C/T | — | conflicting classifications of pathogenicity |
| rs140995129 | 4:152,629,221 | C/T | — | likely benign |
| rs372598891 | 4:152,629,229 | T/C | — | uncertain significance |
| rs28608075 | 4:152,634,121 | C/T | intron variant | — |
| rs1738906319 | 4:152,637,206 | G/A | — | uncertain significance |
| rs138063181 | 4:152,637,217 | A/T | — | uncertain significance |
| rs35487764 | 4:152,637,228 | C/T | — | benign |
| rs150296974 | 4:152,637,229 | G/A | — | likely benign |
| rs769705880 | 4:152,637,236 | C/T | — | uncertain significance |
| rs3792689 | 4:152,637,700 | C/G | — | — |
| rs1738923012 | 4:152,638,046 | T/C | — | uncertain significance |
| rs147478929 | 4:152,638,123 | G/A | — | uncertain significance |
| rs994493403 | 4:152,638,132 | A/T | — | uncertain significance |
| rs2545967355 | 4:152,638,136 | C/T | — | likely benign |
| rs114812418 | 4:152,638,153 | C/A | — | uncertain significance |
| rs1237698677 | 4:152,638,156 | G/A | — | likely benign |
| rs367936727 | 4:152,638,170 | T/C | — | uncertain significance |
| rs2303866 | 4:152,640,387 | C/T | — | benign |
| rs778200799 | 4:152,640,594 | A/C | — | uncertain significance |
| rs376766195 | 4:152,640,610 | A/C | — | pathogenic |
| rs2545969547 | 4:152,640,676 | C/A | — | uncertain significance |
| rs12506000 | 4:152,670,765 | C/T | intron variant | — |
| rs6535822 | 4:152,679,722 | A/G | — | benign |
| rs3828546 | 4:152,679,816 | A/G | — | benign |
| rs766387123 | 4:152,679,925 | G/A | — | uncertain significance |
| rs139944626 | 4:152,679,941 | G/C | — | uncertain significance |
| rs149849085 | 4:152,679,964 | A/G | — | likely benign |
| rs112919678 | 4:152,679,976 | G/A | — | uncertain significance |
| rs202123480 | 4:152,679,989 | G/A | — | uncertain significance |
| rs1311567267 | 4:152,679,994 | T/G | — | uncertain significance |
| rs1739893529 | 4:152,680,049 | C/T | — | uncertain significance |
| rs984111172 | 4:152,680,055 | C/T | — | uncertain significance |
| rs145880897 | 4:152,680,060 | G/A | — | uncertain significance |
| rs149029159 | 4:152,680,065 | T/A | — | likely benign |
| rs1429559 | 4:152,681,952 | A/G | — | benign |
| rs561501280 | 4:152,681,986 | A/G | — | uncertain significance |
| rs6856967 | 4:152,681,998 | G/A | — | benign |
| rs768652138 | 4:152,682,036 | C/T | — | likely benign |
| rs11556167 | 4:152,682,046 | G/T | — | benign |
| rs1578947966 | 4:152,682,071 | C/G | — | uncertain significance |
| rs370555252 | 4:152,682,077 | C/T | — | likely benign |
| rs773984684 | 4:152,682,103 | C/T | — | uncertain significance |
| rs940439542 | 4:152,682,107 | A/G | — | uncertain significance |
| rs1036092694 | 4:152,682,109 | C/A | — | likely benign |
| rs148032516 | 4:152,682,110 | C/A | — | likely benign |
| rs553313362 | 4:152,682,119 | G/C | — | likely benign |
| rs755794629 | 4:152,682,121 | A/G | — | uncertain significance |
| rs368153114 | 4:152,682,131 | C/T | — | uncertain significance |
| rs3811794 | 4:152,682,397 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.