TOMM40
translocase of outer mitochondrial membrane 40
Summary
The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs561654715 | 19:45,394,204 | G/A | — | — |
| rs548069293 | 19:45,394,244 | C/T | — | — |
| rs71352238 | 19:45,394,336 | T/C | regulatory region variant | — |
| rs769259728 | 19:45,394,743 | G/A | — | uncertain significance |
| rs1241800387 | 19:45,394,800 | G/C | — | uncertain significance |
| rs11556510 | 19:45,394,819 | T/G | — | benign |
| rs564387680 | 19:45,394,865 | G/C | — | uncertain significance |
| rs1208903823 | 19:45,394,896 | G/T | — | uncertain significance |
| rs1320347736 | 19:45,394,899 | G/A | — | uncertain significance |
| rs184017 | 19:45,394,969 | T/G | regulatory region variant | — |
| rs157580 | 19:45,395,266 | G/A | downstream gene variant | — |
| rs2075650 | 19:45,395,619 | A/G | intron variant | — |
| rs146640981 | 19:45,395,651 | G/C | — | likely benign |
| rs157581 | 19:45,395,714 | T/C | synonymous variant | — |
| rs775117776 | 19:45,396,121 | A/G | — | uncertain significance |
| rs145734460 | 19:45,396,134 | A/G | — | uncertain significance |
| rs11556505 | 19:45,396,144 | C/T | synonymous variant | — |
| rs2513754629 | 19:45,396,161 | G/A | — | uncertain significance |
| rs157582 | 19:45,396,219 | C/T | downstream gene variant | — |
| rs59007384 | 19:45,396,665 | G/T | downstream gene variant | — |
| rs157583 | 19:45,396,673 | G/A | — | — |
| rs201562912 | 19:45,397,038 | C/T | — | uncertain significance |
| rs201254775 | 19:45,397,287 | G/A | — | uncertain significance |
| rs112849259 | 19:45,397,307 | C/T | synonymous variant | — |
| rs748960699 | 19:45,397,314 | G/A | — | uncertain significance |
| rs157585 | 19:45,397,512 | A/C | upstream gene variant | — |
| rs116881820 | 19:45,397,952 | T/C | upstream gene variant | — |
| rs115908094 | 19:45,398,201 | C/T | upstream gene variant | — |
| rs157587 | 19:45,398,206 | A/G | upstream gene variant | — |
| rs185432524 | 19:45,398,648 | G/A | upstream gene variant | — |
| rs79398853 | 19:45,398,785 | C/T | upstream gene variant | — |
| rs2238681 | 19:45,398,817 | C/T | upstream gene variant | — |
| rs75687619 | 19:45,399,344 | G/T | regulatory region variant | — |
| rs61679753 | 19:45,400,747 | T/A | intron variant | — |
| rs205909 | 19:45,400,775 | T/G | intron variant | — |
| rs8106922 | 19:45,401,666 | A/G | intron variant | — |
| rs55821237 | 19:45,401,782 | C/G | — | — |
| rs56290633 | 19:45,401,783 | T/C | — | — |
| rs552796536 | 19:45,401,987 | G/A | — | — |
| rs111784051 | 19:45,402,262 | T/G | intron variant | — |
| rs490243 | 19:45,402,470 | C/G | — | — |
| rs34878901 | 19:45,402,477 | C/T | intron variant | — |
| rs35568738 | 19:45,402,718 | G/C | intron variant | — |
| rs148998607 | 19:45,403,182 | G/A | intron variant | — |
| rs115881343 | 19:45,403,216 | C/G | — | — |
| rs1160985 | 19:45,403,412 | C/T | intron variant | — |
| rs781291864 | 19:45,403,995 | G/A | — | uncertain significance |
| rs34459630 | 19:45,404,000 | C/T | — | benign |
| rs142412517 | 19:45,404,058 | C/T | missense variant | — |
| rs1430376201 | 19:45,404,091 | C/G | — | uncertain significance |
| rs741780 | 19:45,404,431 | T/G | — | — |
| rs750501486 | 19:45,404,465 | C/T | — | likely benign |
| rs1599945194 | 19:45,404,525 | G/A | — | uncertain significance |
| rs394819 | 19:45,404,579 | G/T | upstream gene variant | — |
| rs1038025 | 19:45,404,972 | T/C | upstream gene variant | — |
| rs144618582 | 19:45,405,181 | T/C | upstream gene variant | — |
| rs1305062 | 19:45,405,521 | G/C | upstream gene variant | — |
| rs777104426 | 19:45,406,299 | G/A | — | uncertain significance |
| rs1272488966 | 19:45,406,320 | C/T | — | uncertain significance |
| rs10119 | 19:45,406,673 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.