ADAMTS7
ADAM metallopeptidase with thrombospondin type 1 motif 7
Summary
The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this 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 encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]
Known Variants203 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373708006 | 15:79,051,767 | C/T | — | uncertain significance |
| rs763301624 | 15:79,051,779 | C/T | — | uncertain significance |
| rs375146471 | 15:79,051,827 | C/T | — | uncertain significance |
| rs369980945 | 15:79,051,842 | C/T | — | uncertain significance |
| rs2055006904 | 15:79,051,851 | G/A | — | uncertain significance |
| rs374991540 | 15:79,051,864 | G/A | — | uncertain significance |
| rs369049846 | 15:79,051,875 | C/T | — | uncertain significance |
| rs756123523 | 15:79,051,876 | G/A | — | uncertain significance |
| rs12438758 | 15:79,052,227 | T/G | — | — |
| rs28590060 | 15:79,052,312 | G/C | — | — |
| rs183456804 | 15:79,053,371 | C/T | intron variant | — |
| rs12324886 | 15:79,054,108 | A/G | regulatory region variant | — |
| rs150570920 | 15:79,054,757 | C/T | — | uncertain significance |
| rs374281685 | 15:79,054,772 | C/T | — | uncertain significance |
| rs763907933 | 15:79,054,783 | G/A | — | uncertain significance |
| rs757487684 | 15:79,054,787 | G/A | — | uncertain significance |
| rs1397849213 | 15:79,054,862 | A/G | — | uncertain significance |
| rs139112621 | 15:79,054,889 | C/G | — | uncertain significance |
| rs7495616 | 15:79,054,900 | C/A | missense variant | — |
| rs11853054 | 15:79,054,919 | G/C | intron variant | — |
| rs7168391 | 15:79,055,163 | G/A | — | — |
| rs188808047 | 15:79,056,068 | C/A | — | likely benign |
| rs368609643 | 15:79,056,096 | G/A | — | uncertain significance |
| rs776529306 | 15:79,056,121 | C/T | — | uncertain significance |
| rs112320482 | 15:79,056,122 | G/A | — | likely benign |
| rs917289114 | 15:79,056,179 | C/A | — | uncertain significance |
| rs948628888 | 15:79,056,181 | C/T | — | uncertain significance |
| rs371317043 | 15:79,056,346 | G/A | — | likely benign |
| rs1220397265 | 15:79,056,365 | C/T | — | uncertain significance |
| rs750358699 | 15:79,056,383 | C/T | — | uncertain significance |
| rs749040886 | 15:79,056,398 | T/C | — | uncertain significance |
| rs1399256726 | 15:79,056,402 | C/T | — | uncertain significance |
| rs374879285 | 15:79,056,423 | C/T | — | uncertain significance |
| rs773235448 | 15:79,056,434 | C/T | — | uncertain significance |
| rs777844477 | 15:79,056,934 | C/T | — | uncertain significance |
| rs747025333 | 15:79,056,946 | C/T | — | likely benign |
| rs369253047 | 15:79,056,965 | G/A | — | uncertain significance |
| rs765037682 | 15:79,056,994 | C/T | — | uncertain significance |
| rs752432985 | 15:79,056,995 | C/G | — | uncertain significance |
| rs200895233 | 15:79,057,006 | C/T | — | uncertain significance |
| rs368083728 | 15:79,057,011 | C/T | — | likely benign |
| rs200168292 | 15:79,057,024 | G/A | — | uncertain significance |
| rs4887097 | 15:79,057,949 | T/G | intron variant | — |
| rs2929155 | 15:79,058,013 | C/G | missense variant | — |
| rs761495032 | 15:79,058,039 | G/A | — | uncertain significance |
| rs3940933 | 15:79,058,040 | C/T | — | uncertain significance |
| rs145671340 | 15:79,058,088 | G/A | — | conflicting classifications of pathogenicity |
| rs759675330 | 15:79,058,129 | G/T | — | uncertain significance |
| rs544310894 | 15:79,058,187 | G/A | missense variant | — |
| rs893563436 | 15:79,058,214 | T/C | — | uncertain significance |
| rs776971128 | 15:79,058,220 | C/T | — | uncertain significance |
| rs11630236 | 15:79,058,298 | T/C | missense variant | — |
| rs2543003555 | 15:79,058,301 | G/T | — | uncertain significance |
| rs781084373 | 15:79,058,319 | G/C | — | uncertain significance |
| rs1407967362 | 15:79,058,321 | T/C | — | uncertain significance |
| rs767903618 | 15:79,058,340 | C/T | — | uncertain significance |
| rs146420162 | 15:79,058,394 | C/T | — | uncertain significance |
| rs1350994266 | 15:79,058,397 | T/C | — | uncertain significance |
| rs138786978 | 15:79,058,454 | C/A | — | uncertain significance |
| rs374769458 | 15:79,058,480 | G/A | — | likely benign |
| rs569275861 | 15:79,058,484 | C/T | — | uncertain significance |
| rs143128314 | 15:79,058,522 | G/C | — | uncertain significance |
| rs558087906 | 15:79,058,529 | G/T | — | uncertain significance |
| rs753702440 | 15:79,058,556 | G/A | — | uncertain significance |
| rs564165741 | 15:79,058,573 | C/T | — | uncertain significance |
| rs1596173569 | 15:79,058,595 | C/G | — | uncertain significance |
| rs2543004310 | 15:79,058,598 | T/C | — | likely benign |
| rs2543004331 | 15:79,058,613 | T/C | — | uncertain significance |
| rs764208124 | 15:79,058,621 | C/T | — | uncertain significance |
| rs757250479 | 15:79,058,631 | G/A | — | uncertain significance |
| rs749605019 | 15:79,058,658 | C/T | — | uncertain significance |
| rs528774660 | 15:79,058,682 | C/G | — | uncertain significance |
| rs139513941 | 15:79,058,687 | G/T | — | uncertain significance |
| rs551113981 | 15:79,058,693 | G/A | — | uncertain significance |
| rs2543004542 | 15:79,058,732 | A/G | — | uncertain significance |
| rs780693652 | 15:79,058,757 | C/T | — | uncertain significance |
| rs769789257 | 15:79,058,763 | T/C | — | uncertain significance |
| rs555699666 | 15:79,058,769 | T/C | — | likely benign |
| rs755471765 | 15:79,058,825 | G/A | — | uncertain significance |
| rs765525570 | 15:79,058,829 | G/T | — | uncertain significance |
| rs780816217 | 15:79,058,834 | G/A | — | uncertain significance |
| rs755595522 | 15:79,058,838 | G/A | — | uncertain significance |
| rs1440515467 | 15:79,058,966 | G/T | — | uncertain significance |
| rs147739185 | 15:79,058,967 | G/T | — | likely benign |
| rs142266635 | 15:79,058,972 | C/G | — | uncertain significance |
| rs534178213 | 15:79,058,973 | G/C | — | uncertain significance |
| rs78079545 | 15:79,059,001 | G/A | — | likely benign |
| rs2543005497 | 15:79,059,003 | G/A | — | uncertain significance |
| rs2543005499 | 15:79,059,005 | T/C | — | uncertain significance |
| rs138120107 | 15:79,059,017 | C/T | — | uncertain significance |
| rs142710954 | 15:79,059,018 | C/T | — | uncertain significance |
| rs755076762 | 15:79,059,033 | C/T | — | uncertain significance |
| rs202058579 | 15:79,059,034 | G/A | — | likely benign |
| rs2543005684 | 15:79,059,060 | A/G | — | uncertain significance |
| rs1256464899 | 15:79,059,069 | C/T | — | uncertain significance |
| rs62012620 | 15:79,059,076 | A/C | — | uncertain significance |
| rs761221094 | 15:79,059,134 | G/T | — | uncertain significance |
| rs549418248 | 15:79,059,167 | C/T | — | uncertain significance |
| rs143974743 | 15:79,059,182 | T/C | — | likely benign |
| rs746217537 | 15:79,059,185 | G/C | — | uncertain significance |
Showing 100 of 203 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.