CHIT1
chitinase 1
Summary
Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012]
Known Variants180 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs191326666 | 1:203,185,113 | G/A | downstream gene variant | — |
| rs192633567 | 1:203,185,235 | G/A | — | uncertain significance |
| rs1236089253 | 1:203,185,263 | T/G | — | uncertain significance |
| rs541251343 | 1:203,185,274 | G/C | — | uncertain significance |
| rs886045830 | 1:203,185,288 | A/G | — | uncertain significance |
| rs376701295 | 1:203,185,418 | G/C | — | uncertain significance |
| rs73066394 | 1:203,185,483 | A/C | — | benign |
| rs1369299780 | 1:203,185,567 | C/T | — | uncertain significance |
| rs1441690560 | 1:203,185,614 | C/T | — | uncertain significance |
| rs140728916 | 1:203,185,737 | C/G | — | uncertain significance |
| rs1656539475 | 1:203,185,779 | G/A | — | uncertain significance |
| rs368913199 | 1:203,185,874 | T/C | — | uncertain significance |
| rs761217387 | 1:203,185,893 | T/G | — | uncertain significance |
| rs56391640 | 1:203,185,898 | A/G | — | uncertain significance |
| rs770846687 | 1:203,185,918 | C/T | — | uncertain significance |
| rs78739067 | 1:203,185,932 | C/T | — | uncertain significance |
| rs886045831 | 1:203,185,960 | G/A | — | uncertain significance |
| rs368377960 | 1:203,186,042 | G/C | — | conflicting classifications of pathogenicity |
| rs371328957 | 1:203,186,060 | C/A | — | benign |
| rs759297490 | 1:203,186,062 | T/C | — | uncertain significance |
| rs200995061 | 1:203,186,066 | G/C | — | uncertain significance |
| rs141079733 | 1:203,186,067 | G/A | — | conflicting classifications of pathogenicity |
| rs73066396 | 1:203,186,068 | G/A | — | conflicting classifications of pathogenicity |
| rs2526337411 | 1:203,186,074 | T/C | — | likely benign |
| rs186594769 | 1:203,186,092 | C/T | — | conflicting classifications of pathogenicity |
| rs1065761 | 1:203,186,093 | G/A | — | conflicting classifications of pathogenicity |
| rs759086746 | 1:203,186,107 | G/T | — | uncertain significance |
| rs769451842 | 1:203,186,109 | A/G | — | uncertain significance |
| rs202003206 | 1:203,186,123 | C/T | — | conflicting classifications of pathogenicity |
| rs199572557 | 1:203,186,124 | G/A | — | uncertain significance |
| rs1656556494 | 1:203,186,132 | G/T | — | uncertain significance |
| rs886045832 | 1:203,186,137 | G/C | — | uncertain significance |
| rs144422918 | 1:203,186,153 | C/T | — | conflicting classifications of pathogenicity |
| rs1656559167 | 1:203,186,172 | G/T | — | uncertain significance |
| rs1656561428 | 1:203,186,227 | A/G | — | likely benign |
| rs73066400 | 1:203,186,257 | A/G | — | conflicting classifications of pathogenicity |
| rs2297947 | 1:203,186,863 | T/C | — | conflicting classifications of pathogenicity |
| rs200625369 | 1:203,186,868 | C/T | — | uncertain significance |
| rs139939985 | 1:203,186,878 | C/T | — | conflicting classifications of pathogenicity |
| rs150852382 | 1:203,186,879 | G/A | — | conflicting classifications of pathogenicity |
| rs374021722 | 1:203,186,884 | G/A | — | conflicting classifications of pathogenicity |
| rs367900575 | 1:203,186,897 | G/A | — | conflicting classifications of pathogenicity |
| rs149987600 | 1:203,186,898 | G/T | — | not provided |
| rs750793447 | 1:203,186,902 | C/A | — | uncertain significance |
| rs2526342173 | 1:203,186,912 | T/A | — | uncertain significance |
| rs752379824 | 1:203,186,924 | C/T | — | conflicting classifications of pathogenicity |
| rs758032638 | 1:203,186,925 | G/A | — | likely benign |
| rs199600055 | 1:203,186,926 | G/T | — | uncertain significance |
| rs770731880 | 1:203,186,933 | C/T | — | uncertain significance |
| rs201682373 | 1:203,186,947 | G/C | — | uncertain significance |
| rs371660597 | 1:203,186,956 | A/G | — | uncertain significance |
| rs9943208 | 1:203,186,963 | C/T | missense variant | likely benign |
| rs147080247 | 1:203,186,964 | G/A | — | benign |
| rs140228721 | 1:203,186,979 | C/A | — | conflicting classifications of pathogenicity |
| rs137954453 | 1:203,186,990 | T/C | — | likely benign |
| rs372939622 | 1:203,188,385 | G/C | — | conflicting classifications of pathogenicity |
| rs2275533 | 1:203,188,389 | G/A | — | conflicting classifications of pathogenicity |
| rs2526349106 | 1:203,188,392 | C/T | — | likely benign |
| rs369594904 | 1:203,188,393 | C/T | — | benign |
| rs538252193 | 1:203,188,456 | A/G | — | conflicting classifications of pathogenicity |
| rs1656648423 | 1:203,188,466 | G/C | — | uncertain significance |
| rs148451620 | 1:203,188,792 | T/C | — | likely benign |
| rs748630131 | 1:203,188,807 | C/T | — | benign |
| rs560698644 | 1:203,188,900 | G/A | — | conflicting classifications of pathogenicity |
| rs764074528 | 1:203,188,901 | C/T | — | uncertain significance |
| rs140151000 | 1:203,188,905 | C/T | — | likely benign |
| rs145366738 | 1:203,188,927 | C/T | — | conflicting classifications of pathogenicity |
| rs778285508 | 1:203,188,928 | A/G | — | uncertain significance |
| rs372798323 | 1:203,188,938 | C/A | — | conflicting classifications of pathogenicity |
| rs182143561 | 1:203,188,940 | G/A | — | uncertain significance |
| rs143518872 | 1:203,188,942 | G/T | — | benign |
| rs61745299 | 1:203,188,943 | G/C | — | benign |
| rs138767766 | 1:203,188,948 | C/T | — | conflicting classifications of pathogenicity |
| rs1403876953 | 1:203,188,960 | C/G | — | uncertain significance |
| rs1656669997 | 1:203,188,968 | C/T | — | uncertain significance |
| rs2526352938 | 1:203,188,976 | T/A | — | uncertain significance |
| rs2486959 | 1:203,189,634 | A/G | intron variant | — |
| rs146112390 | 1:203,191,325 | C/T | — | likely benign |
| rs773220594 | 1:203,191,332 | C/T | — | benign |
| rs368107800 | 1:203,191,333 | G/A | — | likely benign |
| rs769867480 | 1:203,191,339 | G/A | — | likely benign |
| rs775684280 | 1:203,191,342 | G/A | — | likely benign |
| rs763218219 | 1:203,191,351 | A/G | — | likely benign |
| rs199819924 | 1:203,191,357 | C/A | — | benign |
| rs376332725 | 1:203,191,367 | C/G | — | uncertain significance |
| rs1404714351 | 1:203,191,369 | C/G | — | uncertain significance |
| rs193156676 | 1:203,191,381 | G/T | — | conflicting classifications of pathogenicity |
| rs778655930 | 1:203,191,394 | G/A | — | conflicting classifications of pathogenicity |
| rs201975143 | 1:203,191,428 | C/T | — | benign |
| rs7512820 | 1:203,191,994 | G/A | — | — |
| rs368307246 | 1:203,192,253 | T/A | — | conflicting classifications of pathogenicity |
| rs150370762 | 1:203,192,267 | C/T | — | uncertain significance |
| rs114168492 | 1:203,192,283 | G/A | — | conflicting classifications of pathogenicity |
| rs140770731 | 1:203,192,290 | G/C | — | conflicting classifications of pathogenicity |
| rs371464440 | 1:203,192,319 | C/T | — | conflicting classifications of pathogenicity |
| rs377276949 | 1:203,192,320 | G/A | — | benign |
| rs1450535484 | 1:203,192,322 | T/A | — | likely benign |
| rs777287951 | 1:203,192,325 | A/C | — | benign |
| rs200777680 | 1:203,192,339 | G/A | — | conflicting classifications of pathogenicity |
| rs1263370087 | 1:203,192,341 | T/C | — | uncertain significance |
Showing 100 of 180 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.