TIMP3

TIMP metallopeptidase inhibitor 3

Summary

This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]

Known Variants237 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs5749511	22:33,196,384	C/T	regulatory region variant	—
rs9619311	22:33,196,693	T/C	upstream gene variant	—
rs148722870	22:33,196,788	C/T	—	likely benign
rs886057424	22:33,196,817	G/A	—	uncertain significance
rs186649312	22:33,196,852	G/C	—	uncertain significance
rs886057425	22:33,196,906	C/G	—	uncertain significance
rs2234921	22:33,197,074	A/G	upstream gene variant	benign
rs2234920	22:33,197,090	T/C	—	likely benign
rs926657180	22:33,197,228	G/A	—	uncertain significance
rs886057426	22:33,197,304	T/C	—	uncertain significance
rs908307638	22:33,197,431	A/C	—	uncertain significance
rs563393354	22:33,197,455	G/A	—	benign
rs1602181239	22:33,197,500	C/T	—	uncertain significance
rs561308691	22:33,197,517	C/A	—	benign
rs886057427	22:33,197,555	C/T	—	uncertain significance
rs886057428	22:33,197,581	G/A	—	uncertain significance
rs886057429	22:33,197,598	C/A	—	uncertain significance
rs886057430	22:33,197,658	C/T	—	uncertain significance
rs886057431	22:33,197,684	G/A	—	uncertain significance
rs1219106315	22:33,197,704	G/C	—	uncertain significance
rs1001328821	22:33,197,714	G/C	—	uncertain significance
rs532843825	22:33,197,718	G/T	—	uncertain significance
rs191293675	22:33,197,871	G/A	—	benign
rs886057432	22:33,197,883	G/C	—	uncertain significance
rs777890618	22:33,197,994	C/T	—	uncertain significance
rs1383743885	22:33,197,998	G/C	—	uncertain significance
rs1469870955	22:33,198,000	C/T	—	uncertain significance
rs756879798	22:33,198,002	C/T	—	likely benign
rs2046600398	22:33,198,008	C/T	—	likely benign
rs2046600499	22:33,198,011	C/A	—	likely benign
rs796234665	22:33,198,012	G/A	—	uncertain significance
rs2145931057	22:33,198,015	C/T	—	uncertain significance
rs2145931073	22:33,198,016	T/A	—	uncertain significance
rs2046600889	22:33,198,021	G/C	—	conflicting classifications of pathogenicity
rs2545722805	22:33,198,031	G/T	—	uncertain significance
rs2145931146	22:33,198,032	C/T	—	likely benign
rs1236569285	22:33,198,034	T/C	—	uncertain significance
rs372767593	22:33,198,038	G/T	—	likely benign
rs1324470172	22:33,198,039	G/T	—	uncertain significance
rs2545722884	22:33,198,040	A/G	—	uncertain significance
rs534982903	22:33,198,051	G/C	—	benign
rs2545723008	22:33,198,057	T/G	—	uncertain significance
rs2046602540	22:33,198,058	G/T	—	uncertain significance
rs374814967	22:33,198,080	C/G	—	likely benign
rs554775591	22:33,198,097	A/G	—	uncertain significance
rs1270675463	22:33,198,100	C/G	—	pathogenic
rs1398464952	22:33,198,105	A/G	—	uncertain significance
rs2145931593	22:33,198,107	C/G	—	uncertain significance
rs2545723354	22:33,198,108	G/C	—	uncertain significance
rs886057433	22:33,198,112	A/G	—	uncertain significance
rs1327928164	22:33,198,116	C/T	—	likely benign
rs130274	22:33,204,334	C/T	regulatory region variant	—
rs130293	22:33,221,939	G/A	intron variant	—
rs186168513	22:33,223,057	C/T	regulatory region variant	—
rs191068046	22:33,223,189	C/T	regulatory region variant	—
rs715572	22:33,234,931	G/A	intron variant	—
rs8136803	22:33,237,112	G/T	intron variant	—
rs5754312	22:33,244,421	A/T	regulatory region variant	—
rs2048157756	22:33,245,419	G/A	—	likely benign
rs1569273746	22:33,245,445	G/A	—	uncertain significance
rs374488332	22:33,245,446	G/A	—	likely benign
rs113979605	22:33,245,449	C/G	—	likely benign
rs2146244147	22:33,245,455	G/C	—	likely benign
rs767357058	22:33,245,471	G/A	—	uncertain significance
rs2545870917	22:33,245,480	G/A	—	uncertain significance
rs2048159184	22:33,245,483	C/T	—	uncertain significance
rs762299337	22:33,245,488	C/G	—	uncertain significance
rs144942953	22:33,245,489	G/A	—	uncertain significance
rs779515006	22:33,245,493	C/T	—	uncertain significance
rs372960245	22:33,245,494	G/A	—	likely benign
rs754619737	22:33,245,504	A/G	—	conflicting classifications of pathogenicity
rs1186042794	22:33,245,535	T/C	—	likely benign
rs9609643	22:33,251,059	G/A	downstream gene variant	—
rs542900432	22:33,253,220	T/A	—	likely benign
rs753332932	22:33,253,222	C/T	—	likely benign
rs2146285694	22:33,253,232	A/G	—	likely benign
rs752346816	22:33,253,247	C/T	—	likely benign
rs2545892140	22:33,253,256	G/C	—	uncertain significance
rs2545892172	22:33,253,263	C/G	—	uncertain significance
rs757613563	22:33,253,265	T/G	—	uncertain significance
rs2048397352	22:33,253,275	A/G	—	uncertain significance
rs1200390768	22:33,253,277	C/T	—	likely benign
rs9862	22:33,253,280	T/C	synonymous variant	benign
rs200951946	22:33,253,283	G/A	—	likely benign
rs373801773	22:33,253,286	A/G	—	conflicting classifications of pathogenicity
rs11547635	22:33,253,292	C/T	synonymous variant	benign
rs2048398134	22:33,253,302	T/C	—	uncertain significance
rs748376473	22:33,253,307	C/A	—	likely benign
rs201819465	22:33,253,320	G/A	—	benign
rs2146286313	22:33,253,334	G/A	—	likely benign
rs201713879	22:33,253,337	C/T	—	likely benign
rs1198330291	22:33,253,340	G/A	—	likely benign
rs1555985260	22:33,253,342	T/C	—	likely pathogenic
rs371758873	22:33,253,352	T/C	—	uncertain significance
rs1022241857	22:33,253,359	C/T	—	likely benign
rs1601555560	22:33,253,361	C/T	—	likely benign
rs139474181	22:33,253,986	T/C	—	likely benign
rs2545895118	22:33,253,990	C/A	—	likely benign
rs557059377	22:33,253,994	C/T	—	likely benign
rs2146289367	22:33,254,006	C/T	—	uncertain significance

Showing 100 of 237 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.