GTPBP3 Chromosome 19
GTP binding protein 3, mitochondrial
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What This Gene Does
This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]
Associated Conditions (5)
Inborn genetic diseases
Combined oxidative phosphorylation defect type 23
Gastric cancer
See cases
GTPBP3-related disorder
Key Variants
RS141865220
Conflicting classifications of pathogenicity
Health Risk
RS143759529
Conflicting classifications of pathogenicity
Health Risk
RS146343760
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149839355
Conflicting classifications of pathogenicity
Health Risk
RS201374694
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2074426876
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369523370
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 23, Gastric cancer, Combined oxidative phosphorylation defect type 23
Health Risk
RS372174278
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
Health Risk
RS763165541
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 23, Inborn genetic diseases, Combined oxidative phosphorylation defect type 23
Health Risk
RS774708853
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
Health Risk
RS777934121
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
Health Risk
RS1274363168
Likely pathogenic
Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141865220 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143759529 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146343760 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149839355 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201374694 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2074426876 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369523370 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 23, Gastric cancer, Combined oxidative phosphorylation defect type 23 |
| RS372174278 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS763165541 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 23, Inborn genetic diseases, Combined oxidative phosphorylation defect type 23 |
| RS774708853 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS777934121 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS1274363168 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS2513207346 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS748022451 | Health Risk | Likely pathogenic | — |
| RS758057930 | Health Risk | Likely pathogenic | See cases, See cases |
| RS765129583 | Health Risk | Likely pathogenic | — |
| RS766510741 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS770871640 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS770906277 | Health Risk | Likely pathogenic | See cases, See cases |
| RS869320746 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS1019249439 | Health Risk | Pathogenic | — |
| RS1160066280 | Health Risk | Pathogenic | — |
| RS1252909450 | Health Risk | Pathogenic | — |
| RS1261495861 | Health Risk | Pathogenic | — |
| RS1273092523 | Health Risk | Pathogenic | — |
| RS1419691572 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS1555726849 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS2074401700 | Health Risk | Pathogenic | — |
| RS2145701153 | Health Risk | Pathogenic | — |
| RS2145701171 | Health Risk | Pathogenic | — |
| RS2145701950 | Health Risk | Pathogenic | — |
| RS2145702012 | Health Risk | Pathogenic | — |
| RS2145702302 | Health Risk | Pathogenic | GTPBP3-related disorder, GTPBP3-related disorder |
| RS2145703172 | Health Risk | Pathogenic | — |
| RS2513201032 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2513204411 | Health Risk | Pathogenic | — |
| RS2513207214 | Health Risk | Pathogenic | — |
| RS730880255 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS745700518 | Health Risk | Pathogenic | — |
| RS746428014 | Health Risk | Pathogenic | — |
| RS769133364 | Health Risk | Pathogenic | — |
| RS866069044 | Health Risk | Pathogenic | — |
| RS886037734 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS886037735 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS886037736 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS886041488 | Health Risk | Pathogenic | — |
| RS1414881768 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |
| RS1599560256 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23 |
| RS756394857 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |
| RS765975578 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 23, GTPBP3-related disorder, Combined oxidative phosphorylation defect type 23 |