TIMMDC1
translocase of inner mitochondrial membrane domain containing 1
Summary
Predicted to be involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion and nucleoplasm. Implicated in nuclear type mitochondrial complex I deficiency 31. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants92 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs115511641 | 3:119,217,109 | G/C | regulatory region variant | — |
| rs562405336 | 3:119,217,579 | C/T | — | uncertain significance |
| rs773031917 | 3:119,217,581 | A/G | — | pathogenic |
| rs2081843286 | 3:119,217,591 | C/A | — | uncertain significance |
| rs766224492 | 3:119,217,609 | G/T | — | uncertain significance |
| rs780606204 | 3:119,217,638 | C/T | — | uncertain significance |
| rs747630246 | 3:119,217,652 | T/C | — | likely benign |
| rs775801926 | 3:119,217,655 | C/G | — | likely benign |
| rs1228682600 | 3:119,217,671 | G/A | — | uncertain significance |
| rs916333232 | 3:119,217,704 | C/T | — | uncertain significance |
| rs34932768 | 3:119,217,715 | C/T | — | likely benign |
| rs200356602 | 3:119,217,726 | A/G | — | uncertain significance |
| rs1308943683 | 3:119,217,749 | C/A | — | uncertain significance |
| rs774619141 | 3:119,217,755 | C/T | — | uncertain significance |
| rs142917333 | 3:119,217,756 | G/A | — | uncertain significance |
| rs2473061411 | 3:119,217,776 | T/C | — | likely pathogenic |
| rs2081846332 | 3:119,217,785 | C/T | — | likely benign |
| rs200200314 | 3:119,217,789 | G/T | — | benign |
| rs1418294450 | 3:119,219,565 | A/G | — | uncertain significance |
| rs771100866 | 3:119,219,570 | G/C | — | uncertain significance |
| rs11539377 | 3:119,219,573 | A/G | — | benign |
| rs139467319 | 3:119,219,577 | T/C | — | uncertain significance |
| rs149492706 | 3:119,219,579 | C/T | — | benign |
| rs1271449034 | 3:119,219,595 | C/T | — | uncertain significance |
| rs756944302 | 3:119,219,607 | T/C | — | uncertain significance |
| rs755212356 | 3:119,219,634 | C/T | — | uncertain significance |
| rs199712668 | 3:119,219,642 | C/T | — | uncertain significance |
| rs2081868852 | 3:119,219,645 | G/A | — | uncertain significance |
| rs2473064037 | 3:119,219,657 | T/C | — | uncertain significance |
| rs747983487 | 3:119,219,683 | T/G | — | uncertain significance |
| rs2293370 | 3:119,219,934 | G/A | regulatory region variant | — |
| rs147350539 | 3:119,221,074 | T/C | upstream gene variant | — |
| rs531927123 | 3:119,222,374 | T/G | — | uncertain significance |
| rs374648981 | 3:119,222,375 | T/C | — | likely benign |
| rs970547270 | 3:119,222,403 | C/T | — | pathogenic |
| rs371314548 | 3:119,222,409 | T/C | — | uncertain significance |
| rs1577096038 | 3:119,222,416 | G/A | — | uncertain significance |
| rs376182550 | 3:119,222,419 | A/T | — | uncertain significance |
| rs142096113 | 3:119,222,428 | G/A | — | conflicting classifications of pathogenicity |
| rs756320402 | 3:119,222,447 | A/G | — | likely benign |
| rs1131265 | 3:119,222,456 | G/C | — | benign |
| rs115043991 | 3:119,222,832 | A/G | — | likely benign |
| rs2081898967 | 3:119,222,833 | A/G | — | uncertain significance |
| rs376259008 | 3:119,222,842 | C/G | — | uncertain significance |
| rs2081899057 | 3:119,222,849 | C/T | — | uncertain significance |
| rs2473069617 | 3:119,222,880 | T/G | — | likely benign |
| rs1051975043 | 3:119,222,886 | A/G | — | likely benign |
| rs4688011 | 3:119,227,247 | G/A | regulatory region variant | — |
| rs4688013 | 3:119,229,486 | G/A | intron variant | — |
| rs1465324035 | 3:119,232,476 | G/C | — | likely benign |
| rs767347267 | 3:119,232,488 | C/G | — | uncertain significance |
| rs370482859 | 3:119,232,494 | C/T | — | conflicting classifications of pathogenicity |
| rs752068330 | 3:119,232,506 | T/G | — | uncertain significance |
| rs757622339 | 3:119,232,510 | G/T | — | uncertain significance |
| rs781720425 | 3:119,232,516 | C/T | — | likely benign |
| rs146874731 | 3:119,232,517 | G/A | — | uncertain significance |
| rs748766668 | 3:119,232,527 | G/A | — | uncertain significance |
| rs2473080586 | 3:119,232,544 | G/A | — | uncertain significance |
| rs368184254 | 3:119,232,548 | T/C | — | uncertain significance |
| rs760473870 | 3:119,232,573 | A/G | — | likely benign |
| rs11719448 | 3:119,234,594 | C/T | — | benign |
| rs781525096 | 3:119,234,712 | A/G | — | pathogenic |
| rs4461452 | 3:119,236,017 | G/T | — | benign |
| rs775762601 | 3:119,236,047 | C/T | — | likely benign |
| rs200592275 | 3:119,236,053 | A/G | — | uncertain significance |
| rs768071644 | 3:119,236,064 | A/C | — | likely benign |
| rs371825848 | 3:119,236,070 | G/C | — | likely benign |
| rs57168946 | 3:119,236,104 | G/A | — | benign |
| rs776252175 | 3:119,236,113 | A/G | — | uncertain significance |
| rs2473084520 | 3:119,236,117 | A/T | — | uncertain significance |
| rs745698893 | 3:119,236,120 | A/G | — | uncertain significance |
| rs149481081 | 3:119,236,128 | C/T | — | uncertain significance |
| rs761981569 | 3:119,236,129 | G/A | — | uncertain significance |
| rs767754308 | 3:119,236,141 | A/G | — | uncertain significance |
| rs373070678 | 3:119,236,142 | T/C | — | benign |
| rs150396264 | 3:119,236,160 | G/A | — | likely benign |
| rs754090765 | 3:119,236,162 | G/T | — | uncertain significance |
| rs78058140 | 3:119,236,173 | C/T | — | benign |
| rs60006470 | 3:119,236,179 | G/A | — | benign |
| rs757097063 | 3:119,236,180 | C/G | — | likely benign |
| rs11720158 | 3:119,240,130 | G/A | downstream gene variant | — |
| rs1560051303 | 3:119,242,442 | T/C | — | likely benign |
| rs58978800 | 3:119,242,443 | C/T | — | benign |
| rs373679007 | 3:119,242,479 | A/G | — | uncertain significance |
| rs200958513 | 3:119,242,484 | C/T | — | uncertain significance |
| rs2473091171 | 3:119,242,488 | A/C | — | uncertain significance |
| rs779953541 | 3:119,242,490 | A/G | — | conflicting classifications of pathogenicity |
| rs2473091192 | 3:119,242,496 | G/T | — | uncertain significance |
| rs1179746107 | 3:119,242,532 | G/A | — | uncertain significance |
| rs771098508 | 3:119,242,542 | T/G | — | uncertain significance |
| rs2473091308 | 3:119,242,574 | T/G | — | uncertain significance |
| rs2473091314 | 3:119,242,579 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.