ADAMTS19
ADAM metallopeptidase with thrombospondin type 1 motif 19
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008]
Known Variants95 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3866223 | 5:128,794,080 | G/A | upstream gene variant | — |
| rs771880095 | 5:128,796,801 | A/T | — | uncertain significance |
| rs192852831 | 5:128,796,815 | C/G | — | uncertain significance |
| rs1208079610 | 5:128,796,816 | G/T | — | uncertain significance |
| rs1749637004 | 5:128,796,830 | G/A | — | uncertain significance |
| rs1469702137 | 5:128,796,843 | C/G | — | uncertain significance |
| rs775893351 | 5:128,796,860 | C/A | — | uncertain significance |
| rs1420398376 | 5:128,796,920 | G/C | — | uncertain significance |
| rs897345569 | 5:128,797,004 | G/A | — | uncertain significance |
| rs767743570 | 5:128,797,014 | G/C | — | uncertain significance |
| rs1424927430 | 5:128,797,038 | C/T | — | uncertain significance |
| rs1463706094 | 5:128,797,085 | C/G | — | uncertain significance |
| rs2479602603 | 5:128,797,110 | C/A | — | uncertain significance |
| rs1163976680 | 5:128,797,119 | C/G | — | uncertain significance |
| rs968986017 | 5:128,797,142 | C/A | — | uncertain significance |
| rs778870140 | 5:128,797,155 | C/T | — | uncertain significance |
| rs775740515 | 5:128,797,214 | G/C | — | uncertain significance |
| rs147557427 | 5:128,797,258 | G/C | — | benign |
| rs201159584 | 5:128,797,271 | G/A | — | uncertain significance |
| rs141998078 | 5:128,797,325 | G/A | — | benign |
| rs748458894 | 5:128,797,373 | G/T | — | uncertain significance |
| rs776542968 | 5:128,797,395 | C/G | — | uncertain significance |
| rs145826534 | 5:128,797,457 | G/A | — | likely benign |
| rs562455660 | 5:128,844,787 | C/T | — | likely benign |
| rs140409061 | 5:128,844,827 | A/G | — | likely benign |
| rs375681985 | 5:128,844,833 | A/G | — | uncertain significance |
| rs1387736134 | 5:128,844,914 | C/T | — | uncertain significance |
| rs757507105 | 5:128,844,919 | C/T | — | likely benign |
| rs775065663 | 5:128,862,001 | A/G | — | uncertain significance |
| rs753954176 | 5:128,862,139 | T/A | — | uncertain significance |
| rs139181895 | 5:128,863,517 | A/T | — | uncertain significance |
| rs61757477 | 5:128,864,284 | T/A | — | uncertain significance |
| rs546250661 | 5:128,864,292 | A/G | — | uncertain significance |
| rs1752096853 | 5:128,864,318 | A/G | — | uncertain significance |
| rs1752097899 | 5:128,864,336 | A/G | — | uncertain significance |
| rs371039036 | 5:128,864,337 | T/C | — | uncertain significance |
| rs1363146 | 5:128,880,420 | A/G | — | — |
| rs4276452 | 5:128,881,629 | C/T | — | — |
| rs370783191 | 5:128,887,609 | G/A | — | likely benign |
| rs13158524 | 5:128,888,039 | A/T | — | — |
| rs11749004 | 5:128,918,456 | T/C | intron variant | — |
| rs7448395 | 5:128,931,357 | G/C | — | — |
| rs1476083 | 5:128,938,129 | A/T | intron variant | — |
| rs1972624 | 5:128,940,900 | T/C | intron variant | — |
| rs764514493 | 5:128,956,323 | C/G | — | uncertain significance |
| rs188910013 | 5:128,956,418 | G/T | — | uncertain significance |
| rs2480230403 | 5:128,956,428 | G/C | — | uncertain significance |
| rs1422314663 | 5:128,957,889 | A/C | — | uncertain significance |
| rs369975993 | 5:128,957,892 | T/C | — | uncertain significance |
| rs115634132 | 5:128,957,926 | C/T | — | likely benign |
| rs745308211 | 5:128,958,003 | C/T | — | uncertain significance |
| rs748940250 | 5:128,958,008 | T/G | — | uncertain significance |
| rs62399042 | 5:128,971,797 | C/G | intron variant | — |
| rs775500045 | 5:128,977,582 | G/A | — | uncertain significance |
| rs199540994 | 5:128,983,484 | C/A | — | likely benign |
| rs368867511 | 5:128,983,512 | G/A | — | uncertain significance |
| rs1480639715 | 5:128,983,515 | G/T | — | pathogenic |
| rs780595297 | 5:128,983,542 | C/T | — | pathogenic |
| rs772148624 | 5:128,983,569 | C/T | — | pathogenic |
| rs1269062522 | 5:128,983,589 | G/T | — | pathogenic |
| rs768593769 | 5:128,990,016 | T/A | — | uncertain significance |
| rs25816 | 5:128,992,436 | T/C | intron variant | — |
| rs766561554 | 5:128,994,355 | C/A | — | uncertain significance |
| rs768067850 | 5:128,994,428 | C/T | — | uncertain significance |
| rs13436218 | 5:129,000,386 | T/G | regulatory region variant | — |
| rs766012804 | 5:129,015,517 | C/A | — | uncertain significance |
| rs149851287 | 5:129,015,540 | G/A | — | uncertain significance |
| rs2479362903 | 5:129,015,596 | A/C | — | likely benign |
| rs1305534749 | 5:129,019,903 | C/T | — | uncertain significance |
| rs201362888 | 5:129,030,496 | A/G | — | uncertain significance |
| rs780852099 | 5:129,030,517 | C/T | — | likely pathogenic |
| rs146703140 | 5:129,037,113 | G/A | — | uncertain significance |
| rs2479479262 | 5:129,037,125 | A/C | — | uncertain significance |
| rs538019177 | 5:129,037,191 | G/A | — | uncertain significance |
| rs766226159 | 5:129,037,195 | G/A | — | likely benign |
| rs200004633 | 5:129,037,197 | G/A | — | uncertain significance |
| rs746700188 | 5:129,037,220 | G/A | — | uncertain significance |
| rs769134309 | 5:129,037,233 | G/A | — | uncertain significance |
| rs1755857014 | 5:129,037,272 | G/A | — | uncertain significance |
| rs2479498647 | 5:129,039,936 | C/T | — | uncertain significance |
| rs537549651 | 5:129,039,965 | C/T | — | uncertain significance |
| rs767110495 | 5:129,039,971 | G/A | — | uncertain significance |
| rs1756046287 | 5:129,040,014 | G/A | — | uncertain significance |
| rs147880101 | 5:129,040,031 | G/A | — | uncertain significance |
| rs267600341 | 5:129,040,065 | G/A | — | uncertain significance |
| rs246434 | 5:129,043,474 | G/C | intron variant | — |
| rs32818 | 5:129,048,046 | C/T | intron variant | — |
| rs246246 | 5:129,056,759 | G/T | intron variant | — |
| rs246244 | 5:129,064,179 | T/G | — | — |
| rs1206127689 | 5:129,070,712 | T/C | — | uncertain significance |
| rs1410570839 | 5:129,072,771 | T/G | — | uncertain significance |
| rs2479664896 | 5:129,072,777 | T/C | — | uncertain significance |
| rs186986653 | 5:129,072,807 | C/T | — | uncertain significance |
| rs779343132 | 5:129,072,816 | C/A | — | uncertain significance |
| rs2479665849 | 5:129,072,895 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.