DYNC1I2
dynein cytoplasmic 1 intermediate chain 2
Summary
This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs540814246 | 2:172,546,714 | C/T | — | pathogenic |
| rs757274921 | 2:172,546,773 | A/T | — | uncertain significance |
| rs1685493019 | 2:172,549,292 | C/G | — | uncertain significance |
| rs1685494164 | 2:172,549,322 | A/C | — | uncertain significance |
| rs1036524481 | 2:172,549,398 | C/G | — | uncertain significance |
| rs200570160 | 2:172,549,402 | T/C | — | uncertain significance |
| rs6757773 | 2:172,549,630 | T/C | — | — |
| rs2544933640 | 2:172,563,778 | T/G | — | uncertain significance |
| rs753231917 | 2:172,563,818 | C/G | — | uncertain significance |
| rs370644903 | 2:172,563,858 | A/G | — | likely benign |
| rs312925 | 2:172,563,922 | G/A | intron variant | — |
| rs34531723 | 2:172,564,094 | A/G | — | — |
| rs371432713 | 2:172,569,279 | C/T | — | uncertain significance |
| rs1687212554 | 2:172,569,295 | A/G | — | likely benign |
| rs1687213125 | 2:172,569,303 | C/A | — | uncertain significance |
| rs769244386 | 2:172,571,840 | G/A | — | uncertain significance |
| rs1319542307 | 2:172,571,906 | C/T | — | uncertain significance |
| rs2105604308 | 2:172,571,954 | G/A | — | uncertain significance |
| rs3821091 | 2:172,582,112 | T/G | — | benign |
| rs756992961 | 2:172,582,125 | C/A | — | likely benign |
| rs1371563653 | 2:172,582,139 | G/T | — | uncertain significance |
| rs748676271 | 2:172,582,167 | C/A | — | uncertain significance |
| rs200721036 | 2:172,582,212 | A/G | — | likely benign |
| rs1574594051 | 2:172,582,224 | G/A | — | pathogenic |
| rs2105684098 | 2:172,582,509 | A/G | — | uncertain significance |
| rs761607408 | 2:172,582,518 | G/A | — | uncertain significance |
| rs1169301884 | 2:172,582,542 | A/G | — | uncertain significance |
| rs752940799 | 2:172,582,561 | A/G | — | pathogenic |
| rs2545021610 | 2:172,582,741 | C/G | — | uncertain significance |
| rs371436419 | 2:172,582,757 | G/A | — | uncertain significance |
| rs1243884818 | 2:172,582,769 | A/G | — | uncertain significance |
| rs1574596084 | 2:172,582,801 | C/T | — | pathogenic |
| rs2105689812 | 2:172,583,300 | G/A | — | likely pathogenic |
| rs771016003 | 2:172,584,376 | G/C | — | uncertain significance |
| rs201982509 | 2:172,584,380 | T/G | — | uncertain significance |
| rs373704818 | 2:172,584,434 | G/T | — | uncertain significance |
| rs1405446640 | 2:172,584,443 | T/C | — | uncertain significance |
| rs199908685 | 2:172,585,238 | G/T | — | uncertain significance |
| rs765922762 | 2:172,585,342 | C/T | — | uncertain significance |
| rs10204501 | 2:172,588,865 | C/A | — | — |
| rs767705533 | 2:172,600,568 | C/A | — | uncertain significance |
| rs748046826 | 2:172,600,650 | T/C | — | uncertain significance |
| rs199850267 | 2:172,600,675 | G/A | — | likely benign |
| rs1395835043 | 2:172,600,688 | A/G | — | uncertain significance |
| rs749143484 | 2:172,602,309 | T/C | — | uncertain significance |
| rs776758858 | 2:172,602,358 | G/A | — | uncertain significance |
| rs755715165 | 2:172,604,302 | G/A | — | uncertain significance |
| rs1689905426 | 2:172,604,313 | T/C | — | uncertain significance |
| rs1453529572 | 2:172,604,325 | G/C | — | uncertain significance |
| rs2545108123 | 2:172,604,331 | A/G | — | uncertain significance |
| rs369898794 | 2:172,604,339 | A/T | — | likely benign |
| rs201120526 | 2:172,604,356 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.