ADAMTS17

ADAM metallopeptidase with thrombospondin type 1 motif 17

Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]

Known Variants1,071 total

rsidPosition (GRCh37)AllelesClassClinVar
rs124112974915:100,511,673C/A—uncertain significance
rs88605095015:100,511,729G/A—uncertain significance
rs52965644115:100,511,817G/C—uncertain significance
rs18345700515:100,511,860A/C—likely benign
rs53569444915:100,511,869C/G—uncertain significance
rs11646701615:100,511,885C/T—benign
rs1332961215:100,511,906C/G—benign
rs56621661315:100,511,917C/T—uncertain significance
rs206020870415:100,511,929A/C—uncertain significance
rs99436357915:100,511,955T/A—uncertain significance
rs11439148315:100,511,962G/A—uncertain significance
rs52984956115:100,511,970G/C—likely benign
rs37570440315:100,511,991C/T—uncertain significance
rs19175965415:100,512,002C/G—likely benign
rs206021113315:100,512,007G/A—uncertain significance
rs75447804815:100,512,009A/G—uncertain significance
rs18367196415:100,512,029C/T—benign
rs1046818315:100,512,047A/G—benign
rs804197115:100,512,066T/C—benign
rs88605095115:100,512,075C/T—uncertain significance
rs803766615:100,512,079G/A—benign
rs14556176315:100,512,096T/C—uncertain significance
rs206021443315:100,512,106G/A—uncertain significance
rs57335350015:100,512,127C/T—uncertain significance
rs54069641215:100,512,128G/C—uncertain significance
rs13809955315:100,512,135G/A—uncertain significance
rs14102354715:100,512,154G/A—benign
rs88605095215:100,512,178C/T—uncertain significance
rs86875741715:100,512,182C/T—uncertain significance
rs52864469915:100,512,185G/A—uncertain significance
rs18241742715:100,512,228G/A—uncertain significance
rs56419438615:100,512,252C/G—uncertain significance
rs803607615:100,512,253G/C—likely benign
rs13857802915:100,512,255G/C—benign
rs88605095315:100,512,278A/G—uncertain significance
rs804139515:100,512,283C/T—benign
rs88605095415:100,512,291G/C—uncertain significance
rs56263376415:100,512,294A/G—likely benign
rs206021997715:100,512,302A/G—uncertain significance
rs37193885515:100,512,315G/A—uncertain significance
rs75070099015:100,512,316C/T—uncertain significance
rs37478329515:100,512,317G/A—uncertain significance
rs94524773215:100,512,318T/C—uncertain significance
rs802596215:100,512,324T/C—benign
rs52972979015:100,512,328C/T—uncertain significance
rs77864346715:100,512,332T/C—uncertain significance
rs104054125615:100,512,373C/G—uncertain significance
rs54179325115:100,512,379C/G—likely benign
rs804155315:100,512,380C/T—benign
rs55968884115:100,512,387C/T—uncertain significance
rs52824096715:100,512,411G/A—uncertain significance
rs88605095515:100,512,414C/G—uncertain significance
rs94372721615:100,512,421A/G—uncertain significance
rs54020167415:100,512,422C/G—uncertain significance
rs14878922215:100,512,424T/C—benign
rs19119151215:100,512,435A/G—uncertain significance
rs18569066215:100,512,469G/A—uncertain significance
rs76984817115:100,512,492G/T—uncertain significance
rs7504114115:100,512,528G/A—benign
rs95647986515:100,512,592A/G—uncertain significance
rs272719415:100,512,594A/T—uncertain significance
rs19059261915:100,512,595G/A—benign
rs804190115:100,512,600C/T—benign
rs11438301815:100,512,615C/T—benign
rs7774950015:100,512,661C/A—likely benign
rs11642976015:100,512,663C/T—benign
rs7974163615:100,512,748G/A—benign
rs88605095715:100,512,827C/T—uncertain significance
rs1244070615:100,512,828G/A—benign
rs7403705615:100,512,833G/A—benign
rs7403705715:100,512,834C/A—benign
rs13935356715:100,512,841C/T—uncertain significance
rs55024080015:100,512,844G/A—uncertain significance
rs53977635915:100,512,848C/G—uncertain significance
rs75719650615:100,512,858C/T—uncertain significance
rs54210638415:100,512,866T/A—benign
rs5873907015:100,512,878C/T—benign
rs76990915215:100,512,899C/G—uncertain significance
rs11774447415:100,512,901C/T—benign
rs57371929515:100,512,922C/T—uncertain significance
rs76888759615:100,512,923G/A—uncertain significance
rs53667783015:100,512,954G/C—likely benign
rs57790213015:100,512,965C/T—uncertain significance
rs18529014715:100,513,007G/A—uncertain significance
rs6080337315:100,513,042C/G—benign
rs14969449015:100,513,061C/T—likely benign
rs53429188815:100,513,100C/T—uncertain significance
rs272719515:100,513,117G/A—benign
rs257362515:100,513,158T/C—benign
rs18890367215:100,513,159G/A—uncertain significance
rs7514372515:100,513,188C/T—benign
rs18558279515:100,513,292G/A—likely benign
rs258136515:100,513,318C/A—benign
rs90290107315:100,513,319G/A—uncertain significance
rs206024585915:100,513,329T/C—uncertain significance
rs56156182115:100,513,363G/C—likely benign
rs258136315:100,513,364G/A—benign
rs54390531215:100,513,373C/T—likely benign
rs88605095815:100,513,389A/G—uncertain significance
rs98264268115:100,513,394C/G—uncertain significance

Showing 100 of 1,071 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.