L3MBTL3
L3MBTL histone methyl-lysine binding protein 3
Summary
This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]
Known Variants79 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs113898003 | 6:130,341,235 | T/A | — | — |
| rs547211157 | 6:130,341,903 | G/C | — | — |
| rs7752599 | 6:130,343,365 | A/G | splice region variant | — |
| rs143126170 | 6:130,344,246 | T/G | intron variant | — |
| rs953261 | 6:130,345,699 | T/G | intron variant | — |
| rs1415700 | 6:130,345,791 | G/A | intron variant | — |
| rs1415701 | 6:130,345,835 | G/A | intron variant | — |
| rs75191738 | 6:130,348,257 | C/G | — | — |
| rs6569648 | 6:130,349,119 | C/A | — | — |
| rs139719552 | 6:130,354,973 | T/C | intron variant | — |
| rs6899976 | 6:130,358,428 | G/A | regulatory region variant | — |
| rs776070232 | 6:130,363,870 | G/C | — | uncertain significance |
| rs4895864 | 6:130,364,482 | C/T | intron variant | — |
| rs4895865 | 6:130,364,491 | A/G | — | — |
| rs9398934 | 6:130,365,016 | A/G | intron variant | — |
| rs4594967 | 6:130,366,161 | A/T | — | — |
| rs7744830 | 6:130,367,725 | T/C | — | — |
| rs7746589 | 6:130,371,840 | G/C | — | — |
| rs764266149 | 6:130,372,516 | T/G | — | uncertain significance |
| rs1781081868 | 6:130,372,523 | G/A | — | uncertain significance |
| rs7756870 | 6:130,373,648 | C/T | — | — |
| rs375643235 | 6:130,374,039 | A/G | — | uncertain significance |
| rs759505576 | 6:130,374,066 | G/A | — | uncertain significance |
| rs9388768 | 6:130,374,102 | A/C | — | benign |
| rs377679555 | 6:130,374,127 | T/G | — | uncertain significance |
| rs4351283 | 6:130,374,711 | T/C | intron variant | — |
| rs4425613 | 6:130,374,792 | C/A | — | — |
| rs6900473 | 6:130,375,810 | A/C | — | — |
| rs6923819 | 6:130,376,095 | T/G | — | — |
| rs367605291 | 6:130,376,306 | C/A | — | likely benign |
| rs768008218 | 6:130,376,323 | A/G | — | uncertain significance |
| rs200526729 | 6:130,376,350 | C/T | — | uncertain significance |
| rs776161155 | 6:130,376,379 | G/T | — | uncertain significance |
| rs368839890 | 6:130,376,383 | C/T | — | uncertain significance |
| rs772918911 | 6:130,376,399 | G/T | — | uncertain significance |
| rs11759018 | 6:130,377,843 | C/T | intron variant | — |
| rs374985069 | 6:130,378,601 | G/A | — | uncertain significance |
| rs764657481 | 6:130,378,611 | C/T | — | uncertain significance |
| rs199734515 | 6:130,378,623 | C/T | — | uncertain significance |
| rs1475686954 | 6:130,378,637 | A/C | — | uncertain significance |
| rs12661232 | 6:130,379,160 | T/C | intron variant | — |
| rs12201492 | 6:130,379,282 | A/G | intron variant | — |
| rs7760760 | 6:130,379,852 | A/G | intron variant | — |
| rs9375700 | 6:130,379,854 | T/C | intron variant | — |
| rs766315177 | 6:130,381,238 | G/A | — | uncertain significance |
| rs7767284 | 6:130,381,261 | G/A | — | benign |
| rs9375703 | 6:130,386,971 | T/G | regulatory region variant | — |
| rs781250801 | 6:130,387,547 | A/G | — | uncertain significance |
| rs765924975 | 6:130,387,568 | A/G | — | uncertain significance |
| rs369704981 | 6:130,387,609 | G/A | — | uncertain significance |
| rs952617018 | 6:130,389,486 | G/C | — | uncertain significance |
| rs78583790 | 6:130,389,569 | A/G | — | benign |
| rs4364506 | 6:130,389,940 | G/A | intron variant | — |
| rs10499172 | 6:130,390,657 | G/C | intron variant | — |
| rs374581461 | 6:130,392,134 | C/T | — | uncertain significance |
| rs745705585 | 6:130,392,190 | A/G | — | uncertain significance |
| rs4897364 | 6:130,394,666 | C/G | intron variant | — |
| rs12190724 | 6:130,395,960 | C/G | intron variant | — |
| rs13209890 | 6:130,396,545 | T/G | intron variant | — |
| rs7756733 | 6:130,398,013 | T/G | — | — |
| rs200259290 | 6:130,399,711 | C/T | — | uncertain significance |
| rs1490512857 | 6:130,399,755 | A/G | — | uncertain significance |
| rs9492447 | 6:130,403,515 | G/A | — | — |
| rs2535457379 | 6:130,404,809 | G/A | — | uncertain significance |
| rs2535486132 | 6:130,407,288 | C/T | — | uncertain significance |
| rs764129832 | 6:130,407,306 | A/G | — | uncertain significance |
| rs952337081 | 6:130,407,312 | A/G | — | uncertain significance |
| rs985407556 | 6:130,407,324 | G/A | — | uncertain significance |
| rs374456402 | 6:130,407,345 | A/G | — | likely benign |
| rs386352323 | 6:130,413,896 | T/C | — | uncertain significance |
| rs754595554 | 6:130,413,918 | A/G | — | uncertain significance |
| rs2535552282 | 6:130,413,978 | C/T | — | uncertain significance |
| rs13211683 | 6:130,417,833 | G/T | — | — |
| rs773534665 | 6:130,425,614 | C/T | — | uncertain significance |
| rs763375416 | 6:130,425,615 | G/A | — | uncertain significance |
| rs141990019 | 6:130,442,067 | A/C | — | uncertain significance |
| rs769544082 | 6:130,454,687 | G/A | — | uncertain significance |
| rs749415822 | 6:130,454,722 | G/T | — | uncertain significance |
| rs2535982765 | 6:130,460,798 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.