SETDB1
SET domain bifurcated histone lysine methyltransferase 1
Summary
This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs139755856 | 1:150,899,588 | C/T | intron variant | — |
| rs138878430 | 1:150,902,440 | T/C | — | likely benign |
| rs763098871 | 1:150,902,497 | A/G | — | likely benign |
| rs2867296 | 1:150,903,234 | G/C | intron variant | — |
| rs6587542 | 1:150,907,701 | G/C | — | — |
| rs71624514 | 1:150,911,352 | C/T | intron variant | — |
| rs193278801 | 1:150,912,407 | C/T | — | likely benign |
| rs200945323 | 1:150,912,430 | A/C | — | likely benign |
| rs374239668 | 1:150,912,453 | A/G | — | likely benign |
| rs761331671 | 1:150,913,843 | A/C | — | uncertain significance |
| rs367580919 | 1:150,915,043 | C/T | — | likely benign |
| rs755646375 | 1:150,915,142 | C/G | — | likely benign |
| rs1558017116 | 1:150,915,326 | A/G | — | uncertain significance |
| rs142533394 | 1:150,915,377 | A/G | — | likely benign |
| rs2527889114 | 1:150,915,433 | T/C | — | uncertain significance |
| rs587594550 | 1:150,916,466 | C/G | — | uncertain significance |
| rs769484858 | 1:150,917,404 | T/C | — | likely benign |
| rs2527917240 | 1:150,919,459 | A/G | — | uncertain significance |
| rs1184480424 | 1:150,919,483 | A/G | — | uncertain significance |
| rs6694978 | 1:150,919,842 | C/T | intron variant | — |
| rs114623995 | 1:150,921,669 | C/T | — | likely benign |
| rs113296072 | 1:150,921,737 | C/G | — | benign |
| rs143224912 | 1:150,922,939 | C/T | — | likely benign |
| rs2527938126 | 1:150,923,182 | G/A | — | uncertain significance |
| rs778269033 | 1:150,923,574 | G/C | — | likely benign |
| rs750027850 | 1:150,923,892 | A/G | — | likely benign |
| rs1571650932 | 1:150,923,898 | C/G | — | likely benign |
| rs2527990963 | 1:150,933,230 | C/G | — | uncertain significance |
| rs1670795477 | 1:150,933,359 | G/C | — | uncertain significance |
| rs147862934 | 1:150,933,394 | T/C | — | likely benign |
| rs113110991 | 1:150,933,468 | C/T | — | likely benign |
| rs150892641 | 1:150,933,600 | C/T | — | benign |
| rs200601732 | 1:150,935,152 | A/G | — | uncertain significance |
| rs75743857 | 1:150,935,173 | C/T | — | benign |
| rs145830865 | 1:150,935,539 | G/A | — | likely benign |
| rs755383271 | 1:150,935,605 | G/T | — | uncertain significance |
| rs2528012982 | 1:150,936,054 | T/G | — | uncertain significance |
| rs1670910317 | 1:150,936,481 | G/A | — | uncertain significance |
| rs149782127 | 1:150,936,738 | G/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.