MITF
melanocyte inducing transcription factor
Summary
The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]
Known Variants605 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7651891 | 3:69,788,321 | G/A | — | benign |
| rs764723775 | 3:69,788,720 | C/T | — | likely benign |
| rs780642512 | 3:69,788,808 | G/T | — | uncertain significance |
| rs1323075294 | 3:69,788,812 | A/G | — | uncertain significance |
| rs143204933 | 3:69,788,920 | C/G | — | likely benign |
| rs45519135 | 3:69,789,096 | A/C | — | likely benign |
| rs72950037 | 3:69,812,844 | G/T | — | likely benign |
| rs72950039 | 3:69,812,903 | C/T | — | benign |
| rs927240385 | 3:69,813,015 | C/T | — | likely benign |
| rs1441101806 | 3:69,813,040 | C/G | — | uncertain significance |
| rs1335773753 | 3:69,813,062 | A/G | — | uncertain significance |
| rs781087974 | 3:69,813,068 | T/C | — | likely benign |
| rs373660547 | 3:69,813,078 | G/A | — | conflicting classifications of pathogenicity |
| rs538674142 | 3:69,821,008 | C/T | — | — |
| rs78356356 | 3:69,824,093 | A/G | intron variant | — |
| rs60551165 | 3:69,827,409 | T/C | intron variant | — |
| rs62250976 | 3:69,835,405 | T/G | regulatory region variant | — |
| rs62250977 | 3:69,836,592 | G/A | regulatory region variant | — |
| rs2116000 | 3:69,838,613 | G/A | intron variant | — |
| rs13097379 | 3:69,842,428 | A/G | intron variant | — |
| rs150321715 | 3:69,843,660 | T/C | — | uncertain significance |
| rs62250980 | 3:69,844,608 | G/A | intron variant | — |
| rs7626717 | 3:69,845,194 | A/G | intron variant | — |
| rs7636802 | 3:69,845,216 | G/A | — | — |
| rs62251009 | 3:69,849,835 | T/C | intron variant | — |
| rs1430609 | 3:69,854,587 | G/A | — | — |
| rs11917130 | 3:69,855,694 | T/A | intron variant | — |
| rs79502300 | 3:69,856,753 | C/A | — | — |
| rs7611020 | 3:69,856,827 | G/A | intron variant | — |
| rs62251027 | 3:69,862,454 | C/T | — | — |
| rs9836493 | 3:69,863,512 | T/C | intron variant | — |
| rs62251031 | 3:69,865,083 | T/A | — | — |
| rs1529584 | 3:69,870,760 | A/G | — | — |
| rs1529583 | 3:69,870,775 | G/T | — | — |
| rs1156255 | 3:69,878,088 | A/C | intron variant | — |
| rs6805924 | 3:69,879,670 | G/T | intron variant | — |
| rs6795249 | 3:69,879,741 | A/T | intron variant | — |
| rs6805945 | 3:69,879,759 | G/A | intron variant | — |
| rs17638538 | 3:69,880,673 | A/T | intron variant | — |
| rs60438183 | 3:69,880,729 | C/T | intron variant | — |
| rs62252182 | 3:69,881,433 | A/G | intron variant | — |
| rs62252216 | 3:69,881,906 | T/C | intron variant | — |
| rs74956589 | 3:69,886,006 | A/G | intron variant | — |
| rs62252239 | 3:69,893,971 | G/T | intron variant | — |
| rs62253177 | 3:69,906,267 | T/G | — | — |
| rs62253183 | 3:69,907,344 | C/T | intron variant | — |
| rs79375047 | 3:69,907,706 | C/T | intron variant | — |
| rs779387274 | 3:69,915,449 | C/T | — | likely benign |
| rs567805824 | 3:69,915,453 | T/C | — | likely benign |
| rs202166652 | 3:69,915,494 | A/G | — | uncertain significance |
| rs761597919 | 3:69,915,496 | C/T | — | uncertain significance |
| rs1226144443 | 3:69,928,245 | T/C | — | likely benign |
| rs1231587306 | 3:69,928,288 | T/G | — | uncertain significance |
| rs1405659848 | 3:69,928,291 | C/T | — | likely benign |
| rs374097282 | 3:69,928,294 | C/T | — | likely benign |
| rs199697494 | 3:69,928,321 | G/T | — | likely benign |
| rs1478130504 | 3:69,928,397 | C/T | — | uncertain significance |
| rs542555095 | 3:69,928,426 | G/A | — | likely benign |
| rs749431926 | 3:69,928,453 | C/T | — | likely benign |
| rs371080525 | 3:69,928,496 | C/T | — | conflicting classifications of pathogenicity |
| rs190215588 | 3:69,928,509 | C/T | — | uncertain significance |
| rs9849776 | 3:69,928,510 | G/A | — | benign |
| rs777844672 | 3:69,928,519 | G/A | — | likely benign |
| rs370482858 | 3:69,928,525 | A/G | — | likely benign |
| rs749185885 | 3:69,928,541 | G/A | — | likely benign |
| rs17006549 | 3:69,928,677 | G/A | — | benign |
| rs9833046 | 3:69,928,831 | A/G | — | benign |
| rs9837137 | 3:69,928,861 | T/C | — | benign |
| rs561180832 | 3:69,945,379 | A/G | — | — |
| rs995608975 | 3:69,985,754 | G/A | — | uncertain significance |
| rs77588960 | 3:69,985,838 | G/A | — | likely benign |
| rs201445819 | 3:69,985,846 | C/T | — | likely benign |
| rs199515469 | 3:69,985,860 | C/T | — | likely benign |
| rs2471579447 | 3:69,985,870 | T/A | — | likely benign |
| rs760273611 | 3:69,985,874 | A/G | — | likely pathogenic |
| rs1449964136 | 3:69,985,876 | G/A | — | uncertain significance |
| rs771316323 | 3:69,985,880 | G/A | — | conflicting classifications of pathogenicity |
| rs1028159159 | 3:69,985,890 | A/G | — | uncertain significance |
| rs2471579555 | 3:69,985,892 | T/C | — | uncertain significance |
| rs2471579570 | 3:69,985,897 | T/A | — | uncertain significance |
| rs2471579579 | 3:69,985,899 | A/T | — | uncertain significance |
| rs2065844754 | 3:69,985,900 | C/G | — | uncertain significance |
| rs2471579592 | 3:69,985,901 | T/A | — | uncertain significance |
| rs777021150 | 3:69,985,902 | A/G | — | uncertain significance |
| rs2471579611 | 3:69,985,904 | C/T | — | conflicting classifications of pathogenicity |
| rs1553701477 | 3:69,985,907 | G/A | — | pathogenic |
| rs2471579653 | 3:69,985,908 | T/C | — | uncertain significance |
| rs1236436555 | 3:69,985,911 | G/C | — | pathogenic |
| rs765838451 | 3:69,985,916 | A/T | — | likely benign |
| rs2107474440 | 3:69,985,921 | G/A | — | likely benign |
| rs369106678 | 3:69,985,923 | C/A | — | likely benign |
| rs372701105 | 3:69,985,924 | T/C | — | likely benign |
| rs2471579731 | 3:69,985,925 | C/T | — | likely benign |
| rs73117325 | 3:69,986,144 | G/A | — | likely benign |
| rs74677075 | 3:69,986,779 | A/C | — | benign |
| rs2471584594 | 3:69,986,955 | C/T | — | likely benign |
| rs1428665726 | 3:69,986,958 | C/T | — | likely benign |
| rs876657867 | 3:69,986,965 | A/G | — | conflicting classifications of pathogenicity |
| rs776083519 | 3:69,986,966 | T/C | — | likely benign |
| rs1576004543 | 3:69,986,967 | G/A | — | likely benign |
Showing 100 of 605 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.