COMP

cartilage oligomeric matrix protein

Summary

The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]

Known Variants517 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs80351546	19:18,893,429	C/G	—	likely benign
rs537572167	19:18,893,570	C/G	—	likely benign
rs886054301	19:18,893,614	T/C	—	uncertain significance
rs9407	19:18,893,633	C/T	—	likely benign
rs2145897236	19:18,893,664	C/T	—	benign
rs201937857	19:18,893,710	T/C	—	benign
rs77185131	19:18,893,724	C/G	—	benign
rs2055134120	19:18,893,727	A/G	—	uncertain significance
rs61752496	19:18,893,732	T/C	—	benign
rs756579573	19:18,893,735	C/T	—	uncertain significance
rs140511415	19:18,893,736	G/A	—	conflicting classifications of pathogenicity
rs150428337	19:18,893,737	C/T	—	likely benign
rs770795074	19:18,893,754	A/G	—	uncertain significance
rs2145897380	19:18,893,757	C/T	—	uncertain significance
rs745619890	19:18,893,767	G/T	—	likely benign
rs2055134781	19:18,893,769	T/A	—	uncertain significance
rs769440522	19:18,893,774	G/A	—	uncertain significance
rs1323545820	19:18,893,783	G/A	—	likely benign
rs146075881	19:18,893,790	C/T	—	benign
rs762512704	19:18,893,791	G/A	—	likely benign
rs28494505	19:18,893,811	A/G	—	benign
rs371523847	19:18,893,846	C/T	—	benign
rs975316335	19:18,893,851	G/A	—	likely benign
rs116499541	19:18,893,856	C/T	—	likely benign
rs369762722	19:18,893,857	G/A	—	likely benign
rs1555791127	19:18,893,865	A/G	—	uncertain significance
rs138174876	19:18,893,872	C/T	—	uncertain significance
rs766913050	19:18,893,878	C/T	—	conflicting classifications of pathogenicity
rs776802201	19:18,893,879	G/A	—	uncertain significance
rs2512842838	19:18,893,883	G/T	—	uncertain significance
rs1210238659	19:18,893,904	C/T	—	likely benign
rs1468321118	19:18,893,925	C/G	—	likely benign
rs137852655	19:18,893,935	C/T	missense variant	pathogenic
rs312262904	19:18,893,936	C/A	missense variant	pathogenic
rs149551600	19:18,893,938	C/T	missense variant	uncertain significance
rs28936368	19:18,893,939	G/T	synonymous variant	likely benign
rs1601049483	19:18,893,941	A/C	—	uncertain significance
rs139001378	19:18,893,958	C/T	—	likely benign
rs556452100	19:18,893,961	G/A	—	likely benign
rs771292272	19:18,893,969	C/T	—	uncertain significance
rs763098832	19:18,893,999	G/A	—	uncertain significance
rs764317174	19:18,894,001	A/G	—	uncertain significance
rs2512843094	19:18,894,002	C/T	—	uncertain significance
rs1601049644	19:18,894,007	A/G	—	likely benign
rs56090467	19:18,894,903	G/A	—	benign
rs763334255	19:18,894,990	G/A	—	likely benign
rs2055147896	19:18,895,006	G/A	—	likely benign
rs2512844384	19:18,895,011	C/A	—	uncertain significance
rs1176979583	19:18,895,015	T/C	—	uncertain significance
rs765278469	19:18,895,023	G/A	—	uncertain significance
rs565459602	19:18,895,040	C/T	—	uncertain significance
rs2055148198	19:18,895,041	G/A	—	uncertain significance
rs397515513	19:18,895,046	G/C	missense variant	not provided
rs1309386186	19:18,895,054	G/A	—	likely benign
rs867986409	19:18,895,056	C/T	—	uncertain significance
rs1274803045	19:18,895,069	G/A	—	likely benign
rs148554460	19:18,895,074	G/A	—	uncertain significance
rs1457362390	19:18,895,076	G/T	—	uncertain significance
rs370202476	19:18,895,095	G/T	—	uncertain significance
rs1009569574	19:18,895,099	C/G	—	uncertain significance
rs141708238	19:18,895,100	T/A	—	conflicting classifications of pathogenicity
rs2512844626	19:18,895,106	T/C	—	uncertain significance
rs372414886	19:18,895,107	C/T	—	uncertain significance
rs150534218	19:18,895,109	G/C	—	conflicting classifications of pathogenicity
rs376437040	19:18,895,110	T/C	—	uncertain significance
rs2512844654	19:18,895,119	T/C	—	uncertain significance
rs2512844661	19:18,895,121	T/C	—	uncertain significance
rs368444727	19:18,895,126	C/T	—	likely benign
rs1416152202	19:18,895,131	C/T	—	uncertain significance
rs10421797	19:18,895,132	G/A	—	likely benign
rs763030013	19:18,895,134	T/C	—	uncertain significance
rs987402262	19:18,895,136	C/T	—	uncertain significance
rs556356731	19:18,895,137	G/A	—	uncertain significance
rs757419000	19:18,895,149	C/T	—	uncertain significance
rs368459775	19:18,895,150	G/A	—	likely benign
rs1162272600	19:18,895,159	G/A	—	likely benign
rs749783671	19:18,895,164	A/T	—	uncertain significance
rs12327738	19:18,895,218	G/A	—	benign
rs80188831	19:18,895,269	A/G	—	likely benign
rs55780333	19:18,895,370	A/G	—	benign
rs2512845444	19:18,895,706	C/G	—	uncertain significance
rs202228058	19:18,895,722	G/A	—	uncertain significance
rs144170209	19:18,895,726	C/T	—	uncertain significance
rs755456322	19:18,895,727	G/A	—	likely benign
rs2055153736	19:18,895,732	C/T	—	uncertain significance
rs1387407761	19:18,895,737	C/G	—	uncertain significance
rs1464526978	19:18,895,738	G/A	—	uncertain significance
rs1158758744	19:18,895,743	G/A	—	uncertain significance
rs200802161	19:18,895,748	C/T	—	likely benign
rs201624503	19:18,895,749	G/A	—	uncertain significance
rs2145899619	19:18,895,750	C/T	—	uncertain significance
rs1445096943	19:18,895,757	A/G	—	likely benign
rs2512845536	19:18,895,766	C/G	—	uncertain significance
rs771843783	19:18,895,770	A/G	—	conflicting classifications of pathogenicity
rs886054302	19:18,895,784	G/C	—	uncertain significance
rs147854039	19:18,895,790	G/A	—	benign
rs753297721	19:18,895,791	T/C	—	uncertain significance
rs397515512	19:18,895,807	C/T	missense variant	uncertain significance
rs1601052238	19:18,895,809	T/C	—	uncertain significance
rs753120962	19:18,895,817	A/G	—	conflicting classifications of pathogenicity

Showing 100 of 517 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.