ADAMTS9

ADAM metallopeptidase with thrombospondin type 1 motif 9

Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) 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. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]

Known Variants325 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17070905	3:64,507,857	C/T	—	benign
rs2471195644	3:64,507,873	T/G	—	uncertain significance
rs17070909	3:64,507,895	T/C	—	benign
rs61754854	3:64,507,913	T/C	—	benign
rs75938827	3:64,507,921	C/T	—	likely benign
rs149935016	3:64,507,926	C/T	—	uncertain significance
rs57662484	3:64,518,622	G/A	—	benign
rs1374056578	3:64,518,823	C/T	—	likely benign
rs561828098	3:64,518,843	G/A	—	uncertain significance
rs376824318	3:64,518,869	A/G	—	likely benign
rs371438351	3:64,518,879	T/C	—	uncertain significance
rs751213948	3:64,518,902	A/G	—	likely benign
rs138920906	3:64,518,914	G/C	—	likely benign
rs762184284	3:64,518,928	G/C	—	uncertain significance
rs372271088	3:64,518,943	G/T	—	uncertain significance
rs1017537	3:64,518,994	T/C	—	benign
rs11717554	3:64,519,156	T/C	—	benign
rs758536387	3:64,524,908	C/A	—	uncertain significance
rs546873377	3:64,524,912	G/A	—	likely benign
rs771094186	3:64,524,941	C/T	—	uncertain significance
rs9866261	3:64,526,567	A/G	—	benign
rs11130970	3:64,526,610	G/A	—	benign
rs9848764	3:64,526,612	T/C	—	benign
rs3796384	3:64,526,717	C/G	—	benign
rs137856161	3:64,526,815	C/T	—	benign
rs770275540	3:64,526,861	C/T	—	uncertain significance
rs140385164	3:64,526,862	G/T	—	likely benign
rs138585087	3:64,526,874	G/T	—	uncertain significance
rs574455865	3:64,526,896	T/C	—	uncertain significance
rs3796383	3:64,526,942	A/C	—	benign
rs3796382	3:64,526,943	G/A	—	benign
rs201152316	3:64,526,982	C/T	—	likely benign
rs377449238	3:64,527,048	C/T	—	uncertain significance
rs200398762	3:64,527,080	G/T	—	uncertain significance
rs17070965	3:64,527,128	A/C	—	benign
rs2471227183	3:64,527,233	T/C	—	uncertain significance
rs374739163	3:64,527,255	C/T	—	uncertain significance
rs17070967	3:64,527,275	T/C	—	benign
rs772929869	3:64,527,287	G/T	—	uncertain significance
rs1373163	3:64,527,321	C/T	—	benign
rs1036919	3:64,527,336	C/T	—	benign
rs1036918	3:64,527,378	A/G	—	benign
rs1036917	3:64,527,465	C/T	—	benign
rs74534712	3:64,527,501	T/C	—	benign
rs140793506	3:64,527,520	A/G	—	conflicting classifications of pathogenicity
rs1217622322	3:64,527,534	G/A	—	uncertain significance
rs180705803	3:64,527,540	C/T	—	uncertain significance
rs761570056	3:64,527,552	T/C	—	uncertain significance
rs1169781876	3:64,527,571	A/T	—	uncertain significance
rs372767622	3:64,527,591	T/C	—	uncertain significance
rs536901708	3:64,527,635	A/G	—	likely benign
rs73832305	3:64,527,804	C/T	—	benign
rs11706020	3:64,527,835	G/T	—	benign
rs9311895	3:64,532,254	A/G	—	benign
rs751751974	3:64,532,448	C/T	—	uncertain significance
rs6787633	3:64,532,476	G/C	—	benign
rs1162709597	3:64,532,478	C/A	—	uncertain significance
rs1466620457	3:64,532,479	C/T	—	likely benign
rs139126890	3:64,532,504	G/C	—	uncertain significance
rs745563488	3:64,532,565	C/T	—	uncertain significance
rs754539373	3:64,532,566	G/A	—	benign
rs35990034	3:64,532,578	G/A	—	benign
rs370003868	3:64,532,585	G/A	—	likely benign
rs2471238010	3:64,532,630	T/C	—	uncertain significance
rs78826033	3:64,532,773	T/G	—	benign
rs765889933	3:64,536,608	T/C	—	uncertain significance
rs374354849	3:64,536,626	C/T	—	conflicting classifications of pathogenicity
rs200122001	3:64,536,627	G/A	—	uncertain significance
rs771051773	3:64,536,635	G/A	—	uncertain significance
rs140575639	3:64,536,638	C/T	—	uncertain significance
rs80311637	3:64,536,648	C/T	missense variant	benign
rs141827552	3:64,536,649	G/A	—	benign
rs2471245247	3:64,536,654	A/T	—	uncertain significance
rs760094936	3:64,536,656	C/T	—	likely benign
rs2471245344	3:64,536,686	T/C	—	uncertain significance
rs146412036	3:64,536,694	C/A	—	benign
rs17071010	3:64,536,702	T/C	—	likely benign
rs775861579	3:64,536,720	C/T	—	uncertain significance
rs376962279	3:64,536,721	G/A	—	likely benign
rs1204357433	3:64,536,730	C/A	—	uncertain significance
rs370501725	3:64,536,742	T/A	—	benign
rs73832311	3:64,536,818	C/T	—	benign
rs17071048	3:64,547,178	T/C	—	benign
rs755013991	3:64,547,373	C/T	—	uncertain significance
rs150552517	3:64,547,390	T/A	—	conflicting classifications of pathogenicity
rs1317836086	3:64,547,392	C/T	—	likely benign
rs35667547	3:64,547,477	G/C	—	benign
rs80265358	3:64,547,502	C/T	—	benign
rs9836795	3:64,553,963	T/C	—	benign
rs993538407	3:64,554,028	G/A	—	likely benign
rs139982064	3:64,554,055	C/T	—	uncertain significance
rs753793134	3:64,554,072	G/A	—	uncertain significance
rs777551320	3:64,554,101	C/T	—	likely benign
rs7635677	3:64,554,254	T/C	—	benign
rs78719559	3:64,554,259	G/A	—	benign
rs78088367	3:64,579,781	T/C	—	benign
rs150420672	3:64,579,930	G/A	—	likely benign
rs373632346	3:64,579,966	C/T	—	uncertain significance
rs370621069	3:64,579,980	T/C	—	uncertain significance
rs774358269	3:64,580,003	G/A	—	likely benign

Showing 100 of 325 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.