HDC
histidine decarboxylase
Summary
This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[provided by RefSeq, Aug 2010]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769958247 | 15:50,534,500 | C/T | — | uncertain significance |
| rs2073440 | 15:50,534,514 | T/G | missense variant | — |
| rs2045408919 | 15:50,534,671 | A/G | — | uncertain significance |
| rs750174191 | 15:50,534,675 | G/A | — | uncertain significance |
| rs16963485 | 15:50,534,703 | C/T | — | benign |
| rs200537365 | 15:50,534,717 | T/A | — | uncertain significance |
| rs775075139 | 15:50,534,771 | C/T | — | uncertain significance |
| rs16963486 | 15:50,534,789 | A/G | missense variant | benign |
| rs1549521 | 15:50,534,832 | A/G | — | benign |
| rs201567805 | 15:50,534,863 | C/T | — | uncertain significance |
| rs2045414939 | 15:50,534,878 | A/T | — | uncertain significance |
| rs143383439 | 15:50,534,890 | G/C | — | uncertain significance |
| rs371216664 | 15:50,534,891 | C/A | — | uncertain significance |
| rs368952881 | 15:50,534,922 | A/G | — | likely benign |
| rs750738762 | 15:50,534,935 | G/T | — | uncertain significance |
| rs145672878 | 15:50,534,966 | T/C | — | likely benign |
| rs778709808 | 15:50,534,990 | G/A | — | uncertain significance |
| rs138250620 | 15:50,535,008 | T/C | — | uncertain significance |
| rs749851294 | 15:50,535,348 | G/A | — | uncertain significance |
| rs745870120 | 15:50,535,394 | A/G | — | likely benign |
| rs2509345724 | 15:50,540,449 | A/C | — | uncertain significance |
| rs753711110 | 15:50,540,504 | C/G | — | uncertain significance |
| rs854150 | 15:50,542,159 | C/T | — | — |
| rs267606861 | 15:50,544,717 | C/T | stop gained | pathogenic |
| rs368742064 | 15:50,544,870 | C/T | — | uncertain significance |
| rs141554251 | 15:50,544,909 | G/T | — | uncertain significance |
| rs2509355499 | 15:50,544,946 | G/A | — | likely benign |
| rs138457034 | 15:50,544,965 | C/A | — | uncertain significance |
| rs763566788 | 15:50,545,861 | G/A | — | likely benign |
| rs754928207 | 15:50,546,346 | C/T | — | uncertain significance |
| rs376573427 | 15:50,546,350 | G/C | — | likely benign |
| rs35806322 | 15:50,546,742 | G/A | — | likely benign |
| rs1338733010 | 15:50,546,743 | G/A | — | uncertain significance |
| rs747227627 | 15:50,546,752 | C/T | — | uncertain significance |
| rs2509362151 | 15:50,546,779 | T/C | — | likely benign |
| rs190015441 | 15:50,546,780 | C/T | — | uncertain significance |
| rs1202800858 | 15:50,546,801 | C/G | — | uncertain significance |
| rs2509362414 | 15:50,546,843 | T/C | — | uncertain significance |
| rs143849528 | 15:50,549,708 | C/T | — | uncertain significance |
| rs1894236 | 15:50,551,930 | C/G | — | — |
| rs2283429 | 15:50,552,585 | G/A | regulatory region variant | — |
| rs767048830 | 15:50,555,463 | A/G | — | uncertain significance |
| rs763716383 | 15:50,555,487 | T/G | — | uncertain significance |
| rs17740607 | 15:50,555,544 | G/A | missense variant | benign |
| rs768687991 | 15:50,555,560 | G/A | — | uncertain significance |
| rs140958918 | 15:50,555,561 | C/T | — | likely benign |
| rs2509380645 | 15:50,555,606 | T/C | — | likely pathogenic |
| rs180930492 | 15:50,555,681 | C/T | intron variant | — |
| rs11856059 | 15:50,556,997 | C/A | — | — |
| rs557594582 | 15:50,557,803 | C/G | — | uncertain significance |
| rs919567000 | 15:50,557,811 | G/T | — | uncertain significance |
| rs1237186677 | 15:50,557,816 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.