HDAC7
histone deacetylase 7
Summary
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants79 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2539758353 | 12:48,177,913 | T/A | — | uncertain significance |
| rs139571562 | 12:48,177,976 | C/T | — | uncertain significance |
| rs570780774 | 12:48,179,234 | T/G | — | uncertain significance |
| rs1943124292 | 12:48,179,248 | G/A | — | uncertain significance |
| rs749303937 | 12:48,181,508 | G/C | — | uncertain significance |
| rs148606386 | 12:48,181,528 | G/T | — | uncertain significance |
| rs543267989 | 12:48,181,529 | G/C | — | uncertain significance |
| rs566816185 | 12:48,181,864 | G/A | — | likely benign |
| rs781286336 | 12:48,183,654 | C/T | — | uncertain significance |
| rs192475049 | 12:48,183,663 | T/C | — | uncertain significance |
| rs1344218982 | 12:48,183,680 | A/T | — | uncertain significance |
| rs150427893 | 12:48,185,077 | G/A | — | uncertain significance |
| rs373835633 | 12:48,185,096 | G/A | — | benign |
| rs2539806788 | 12:48,185,375 | G/C | — | uncertain significance |
| rs762203099 | 12:48,185,381 | C/T | — | uncertain significance |
| rs760845864 | 12:48,185,398 | C/T | — | uncertain significance |
| rs769508062 | 12:48,185,429 | C/T | — | uncertain significance |
| rs142853059 | 12:48,185,461 | T/C | — | uncertain significance |
| rs773301749 | 12:48,185,668 | G/A | — | uncertain significance |
| rs139966547 | 12:48,185,743 | C/T | — | uncertain significance |
| rs150532318 | 12:48,185,772 | G/C | — | uncertain significance |
| rs2539819356 | 12:48,187,154 | G/T | — | uncertain significance |
| rs772716842 | 12:48,187,203 | G/C | — | uncertain significance |
| rs371195772 | 12:48,187,211 | C/T | — | uncertain significance |
| rs1283253475 | 12:48,187,244 | G/A | — | uncertain significance |
| rs75365750 | 12:48,187,254 | A/G | missense variant | — |
| rs139496736 | 12:48,187,292 | G/C | — | likely benign |
| rs1943648355 | 12:48,187,320 | T/C | — | uncertain significance |
| rs781403133 | 12:48,187,338 | G/A | — | uncertain significance |
| rs574291721 | 12:48,187,349 | C/T | — | uncertain significance |
| rs746664956 | 12:48,188,682 | C/T | — | uncertain significance |
| rs769065890 | 12:48,188,703 | G/C | — | uncertain significance |
| rs1489006321 | 12:48,189,116 | T/C | — | uncertain significance |
| rs2136962616 | 12:48,189,158 | C/T | — | uncertain significance |
| rs2539835223 | 12:48,189,417 | G/T | — | uncertain significance |
| rs376484116 | 12:48,189,438 | G/A | — | uncertain significance |
| rs914259924 | 12:48,189,451 | C/T | — | uncertain significance |
| rs889916997 | 12:48,189,483 | G/C | — | uncertain significance |
| rs201698457 | 12:48,189,511 | G/A | — | uncertain significance |
| rs565007154 | 12:48,189,525 | G/C | — | uncertain significance |
| rs898527845 | 12:48,189,538 | G/A | — | uncertain significance |
| rs200019715 | 12:48,189,798 | G/A | — | uncertain significance |
| rs546464918 | 12:48,190,017 | G/T | — | uncertain significance |
| rs1430353881 | 12:48,190,026 | G/C | — | uncertain significance |
| rs138146204 | 12:48,190,030 | T/C | — | uncertain significance |
| rs148220732 | 12:48,190,056 | C/T | — | benign |
| rs141182137 | 12:48,190,804 | G/A | — | likely benign |
| rs199943019 | 12:48,190,806 | G/A | — | uncertain significance |
| rs142272339 | 12:48,190,821 | G/A | — | uncertain significance |
| rs772945945 | 12:48,190,824 | G/A | — | uncertain significance |
| rs758281585 | 12:48,190,826 | C/T | — | uncertain significance |
| rs2539847554 | 12:48,190,867 | C/G | — | uncertain significance |
| rs61754652 | 12:48,190,900 | G/A | — | likely benign |
| rs2539847995 | 12:48,190,919 | T/G | — | uncertain significance |
| rs375989920 | 12:48,191,196 | G/A | — | uncertain significance |
| rs145306725 | 12:48,191,242 | T/C | — | uncertain significance |
| rs144718030 | 12:48,191,262 | G/A | — | conflicting classifications of pathogenicity |
| rs751520680 | 12:48,192,347 | C/T | — | uncertain significance |
| rs779766353 | 12:48,192,378 | G/C | — | uncertain significance |
| rs201981762 | 12:48,192,428 | A/G | — | uncertain significance |
| rs147027482 | 12:48,192,573 | T/G | — | uncertain significance |
| rs147646854 | 12:48,192,575 | G/T | — | uncertain significance |
| rs201344787 | 12:48,192,630 | G/A | — | uncertain significance |
| rs371297447 | 12:48,192,638 | C/T | — | likely benign |
| rs770085561 | 12:48,192,665 | G/A | — | uncertain significance |
| rs1376180753 | 12:48,192,675 | C/G | — | uncertain significance |
| rs573840781 | 12:48,192,716 | G/A | — | uncertain significance |
| rs538272411 | 12:48,192,729 | G/C | — | uncertain significance |
| rs2539880985 | 12:48,196,015 | G/A | — | uncertain significance |
| rs377755527 | 12:48,196,039 | G/A | — | uncertain significance |
| rs11168244 | 12:48,202,941 | C/A | — | — |
| rs56389811 | 12:48,205,358 | C/A | — | — |
| rs11168249 | 12:48,208,368 | T/C | intron variant | — |
| rs11168251 | 12:48,209,663 | G/C | — | — |
| rs148637595 | 12:48,213,386 | C/G | regulatory region variant | — |
| rs1472942056 | 12:48,213,556 | C/G | — | uncertain significance |
| rs113736796 | 12:48,213,720 | C/G | regulatory region variant | — |
| rs80325942 | 12:48,213,991 | C/T | regulatory region variant | — |
| rs2544038 | 12:48,215,233 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.