KDM4C
lysine demethylase 4C
Summary
This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Known Variants89 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs574138236 | 9:6,720,948 | G/C | — | uncertain significance |
| rs373502990 | 9:6,720,959 | A/G | — | uncertain significance |
| rs10815468 | 9:6,784,726 | G/T | — | — |
| rs749010878 | 9:6,793,056 | T/C | — | uncertain significance |
| rs142419414 | 9:6,793,115 | C/T | — | uncertain significance |
| rs572148797 | 9:6,805,685 | C/T | — | likely benign |
| rs745477840 | 9:6,814,685 | G/T | — | uncertain significance |
| rs372878276 | 9:6,814,707 | A/G | — | uncertain significance |
| rs4742269 | 9:6,849,317 | G/A | intron variant | — |
| rs750849589 | 9:6,849,508 | G/T | — | uncertain significance |
| rs61750314 | 9:6,849,518 | A/G | — | benign |
| rs192832191 | 9:6,849,579 | A/G | — | uncertain significance |
| rs1838470091 | 9:6,849,650 | C/T | — | likely benign |
| rs7864351 | 9:6,849,689 | G/C | — | benign |
| rs144488637 | 9:6,877,262 | G/A | intron variant | — |
| rs182255463 | 9:6,880,058 | C/G | — | uncertain significance |
| rs147868042 | 9:6,887,978 | C/G | — | uncertain significance |
| rs369485174 | 9:6,888,029 | C/T | — | uncertain significance |
| rs114371470 | 9:6,888,034 | T/C | — | benign |
| rs144112322 | 9:6,899,218 | A/G | upstream gene variant | — |
| rs10115920 | 9:6,926,233 | G/A | intron variant | — |
| rs10975917 | 9:6,937,491 | G/C | intron variant | — |
| rs554596237 | 9:6,953,063 | T/G | — | — |
| rs818898 | 9:6,970,806 | A/C | — | — |
| rs1340513 | 9:6,977,633 | G/A | intron variant | — |
| rs1345992659 | 9:6,980,958 | A/G | — | uncertain significance |
| rs762211831 | 9:6,980,985 | C/T | — | uncertain significance |
| rs1376326857 | 9:6,981,021 | A/G | — | uncertain significance |
| rs560744778 | 9:6,981,070 | T/A | — | uncertain significance |
| rs35049841 | 9:6,981,115 | G/A | — | uncertain significance |
| rs201415962 | 9:6,984,189 | C/G | — | uncertain significance |
| rs2491158015 | 9:6,984,275 | G/A | — | uncertain significance |
| rs930982786 | 9:6,984,303 | C/T | — | uncertain significance |
| rs145951688 | 9:6,984,375 | A/G | — | uncertain significance |
| rs775365743 | 9:6,986,368 | T/C | — | uncertain significance |
| rs150761576 | 9:6,986,379 | A/G | — | uncertain significance |
| rs1225252760 | 9:6,986,394 | G/A | — | uncertain significance |
| rs112782148 | 9:6,986,421 | C/A | — | uncertain significance |
| rs374887551 | 9:6,986,427 | A/G | — | uncertain significance |
| rs757084438 | 9:6,986,497 | C/T | — | uncertain significance |
| rs1817753762 | 9:6,986,592 | C/A | — | uncertain significance |
| rs780250075 | 9:6,986,632 | C/G | — | uncertain significance |
| rs779512051 | 9:6,986,647 | A/G | — | uncertain significance |
| rs202002945 | 9:6,990,419 | G/A | — | likely benign |
| rs774642718 | 9:6,990,477 | C/T | — | uncertain significance |
| rs142354964 | 9:6,990,494 | C/G | — | uncertain significance |
| rs1822732974 | 9:7,011,722 | A/G | — | uncertain significance |
| rs138388124 | 9:7,011,796 | G/A | — | uncertain significance |
| rs1823135420 | 9:7,013,793 | T/A | — | uncertain significance |
| rs148014636 | 9:7,013,824 | G/A | — | uncertain significance |
| rs371419969 | 9:7,013,842 | G/C | — | uncertain significance |
| rs35006356 | 9:7,013,874 | C/T | — | benign |
| rs2491753209 | 9:7,015,881 | C/G | — | uncertain significance |
| rs10975990 | 9:7,026,716 | G/C | — | — |
| rs10758821 | 9:7,030,268 | G/T | intron variant | — |
| rs1407862 | 9:7,032,776 | G/C | — | — |
| rs16925187 | 9:7,043,455 | C/G | intron variant | — |
| rs1415127370 | 9:7,049,096 | G/A | — | uncertain significance |
| rs752325936 | 9:7,049,118 | C/A | — | uncertain significance |
| rs925972193 | 9:7,049,139 | C/T | — | uncertain significance |
| rs777783219 | 9:7,049,172 | G/T | — | uncertain significance |
| rs1057200 | 9:7,050,341 | C/T | — | — |
| rs10815509 | 9:7,051,245 | G/A | — | — |
| rs114111025 | 9:7,053,666 | A/C | intron variant | — |
| rs4742293 | 9:7,057,536 | G/T | intron variant | — |
| rs370787711 | 9:7,103,702 | A/C | — | uncertain significance |
| rs764902725 | 9:7,103,706 | C/T | — | uncertain significance |
| rs370623028 | 9:7,103,748 | G/A | — | uncertain significance |
| rs762093342 | 9:7,103,761 | C/A | — | uncertain significance |
| rs34024339 | 9:7,103,795 | G/A | — | benign |
| rs754390647 | 9:7,103,796 | G/A | — | uncertain significance |
| rs770499419 | 9:7,103,848 | G/A | — | uncertain significance |
| rs115813250 | 9:7,103,858 | C/G | — | benign |
| rs775326525 | 9:7,103,866 | A/G | — | uncertain significance |
| rs759782309 | 9:7,128,075 | G/T | — | uncertain significance |
| rs775642682 | 9:7,128,081 | G/A | — | uncertain significance |
| rs722628 | 9:7,146,888 | G/T | — | — |
| rs12001158 | 9:7,155,356 | A/T | — | — |
| rs777827556 | 9:7,165,248 | G/T | — | uncertain significance |
| rs747465304 | 9:7,165,301 | G/A | — | uncertain significance |
| rs367739028 | 9:7,165,314 | A/G | — | uncertain significance |
| rs10815533 | 9:7,165,946 | A/G | intron variant | — |
| rs773233064 | 9:7,169,886 | G/A | — | uncertain significance |
| rs79109558 | 9:7,171,041 | C/T | intron variant | — |
| rs80101107 | 9:7,174,252 | A/C | — | — |
| rs1845278676 | 9:7,174,598 | G/A | — | uncertain significance |
| rs1845280097 | 9:7,174,611 | G/T | — | uncertain significance |
| rs926692405 | 9:7,174,719 | A/G | — | uncertain significance |
| rs1845290795 | 9:7,174,722 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.