COL19A1

collagen type XIX alpha 1 chain

Summary

This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]

Known Variants168 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs776062081	6:70,578,539	G/C	—	—
rs369591852	6:70,589,511	C/A	—	uncertain significance
rs769033556	6:70,589,529	G/A	—	uncertain significance
rs6919210	6:70,589,630	G/C	—	benign
rs13194248	6:70,589,711	T/A	—	benign
rs2487439	6:70,589,723	A/G	—	benign
rs9446168	6:70,609,082	G/A	—	benign
rs10428870	6:70,609,155	C/G	—	benign
rs773102306	6:70,610,164	G/A	—	likely benign
rs9454910	6:70,610,283	C/T	—	benign
rs558875751	6:70,639,323	A/G	—	likely benign
rs1772610834	6:70,639,380	G/A	—	uncertain significance
rs753339843	6:70,639,432	G/A	—	uncertain significance
rs6455352	6:70,639,897	A/T	—	benign
rs79852016	6:70,642,622	T/C	—	benign
rs2345783	6:70,642,660	C/T	—	benign
rs2481854234	6:70,642,685	A/T	—	uncertain significance
rs2481854364	6:70,642,708	G/T	—	likely benign
rs778798198	6:70,642,719	A/G	—	uncertain significance
rs2273428	6:70,643,018	G/A	—	benign
rs752541475	6:70,646,678	G/T	—	uncertain significance
rs371512552	6:70,646,767	G/C	—	uncertain significance
rs758950206	6:70,646,791	A/G	—	uncertain significance
rs958243682	6:70,646,798	A/G	—	uncertain significance
rs75920229	6:70,647,654	C/T	—	benign
rs200717532	6:70,647,936	G/A	—	uncertain significance
rs148101356	6:70,647,939	G/A	—	uncertain significance
rs140192576	6:70,647,980	T/G	—	uncertain significance
rs199945062	6:70,647,991	C/T	—	uncertain significance
rs60011987	6:70,648,111	A/G	—	benign
rs73746834	6:70,672,541	T/C	—	benign
rs7742627	6:70,672,827	A/G	—	benign
rs7761144	6:70,672,902	C/T	—	benign
rs76535392	6:70,709,541	A/C	intron variant	—
rs533065948	6:70,713,203	A/G	—	—
rs117289273	6:70,733,214	G/A	—	benign
rs2273426	6:70,733,547	C/G	—	benign
rs1778573674	6:70,733,571	A/G	—	uncertain significance
rs56831384	6:70,733,716	G/A	—	benign
rs3793039	6:70,741,209	A/G	intron variant	—
rs12198558	6:70,743,842	C/G	—	benign
rs750865834	6:70,744,174	G/A	—	uncertain significance
rs7764390	6:70,744,264	G/C	—	benign
rs7764576	6:70,744,401	G/T	—	benign
rs2208089	6:70,745,696	G/A	—	benign
rs2482329790	6:70,745,817	C/A	—	uncertain significance
rs9454948	6:70,745,978	A/G	—	benign
rs16868456	6:70,746,098	A/G	—	benign
rs189065451	6:70,746,847	A/G	intron variant	—
rs7349861	6:70,778,297	G/A	—	benign
rs200347735	6:70,778,316	G/T	—	uncertain significance
rs562804000	6:70,778,349	C/G	—	uncertain significance
rs776337785	6:70,778,361	G/A	—	uncertain significance
rs2224513	6:70,778,378	C/G	—	benign
rs2224514	6:70,778,379	C/T	—	benign
rs16868507	6:70,778,481	T/C	—	benign
rs777753694	6:70,812,103	C/A	—	uncertain significance
rs7772672	6:70,812,123	G/A	—	benign
rs11759810	6:70,812,273	G/A	—	benign
rs773445505	6:70,831,793	A/C	—	uncertain significance
rs752348728	6:70,831,803	C/T	—	uncertain significance
rs753845024	6:70,831,809	G/A	—	uncertain significance
rs57248525	6:70,840,124	A/T	—	benign
rs3763247	6:70,840,273	T/A	—	benign
rs3763248	6:70,840,287	A/T	—	benign
rs149800727	6:70,840,342	T/C	—	benign
rs9446206	6:70,847,385	T/C	—	benign
rs2482790223	6:70,847,614	G/T	—	uncertain significance
rs914205322	6:70,847,632	G/C	—	uncertain significance
rs138228165	6:70,847,635	A/T	—	uncertain significance
rs779570714	6:70,847,637	C/A	—	uncertain significance
rs1308868390	6:70,850,874	G/A	—	uncertain significance
rs776936815	6:70,851,798	T/C	—	uncertain significance
rs79063536	6:70,852,073	C/T	—	benign
rs9342783	6:70,852,493	A/G	—	benign
rs2296013	6:70,852,841	A/T	—	benign
rs9364074	6:70,854,183	A/G	—	benign
rs9454991	6:70,854,736	C/T	—	benign
rs34837646	6:70,854,818	A/G	—	benign
rs1255872726	6:70,854,828	A/G	—	uncertain significance
rs2482823739	6:70,854,846	C/T	—	uncertain significance
rs6903592	6:70,855,171	T/A	—	benign
rs7762409	6:70,856,536	C/T	—	benign
rs74352237	6:70,856,657	T/C	—	benign
rs75208940	6:70,856,658	G/A	—	benign
rs745676426	6:70,856,719	C/A	—	uncertain significance
rs140296027	6:70,856,731	G/A	—	uncertain significance
rs144153454	6:70,856,743	G/A	—	uncertain significance
rs10214833	6:70,857,008	G/T	—	benign
rs2025286	6:70,858,701	A/T	—	—
rs2025284	6:70,858,783	T/C	intron variant	—
rs2346211	6:70,859,487	A/T	—	benign
rs142628684	6:70,859,609	C/A	—	uncertain significance
rs141366908	6:70,859,750	G/A	—	uncertain significance
rs374739394	6:70,859,887	G/A	—	uncertain significance
rs1242733751	6:70,859,930	G/C	—	uncertain significance
rs3818327	6:70,861,135	T/G	—	benign
rs765477557	6:70,861,301	C/T	—	uncertain significance
rs2482851922	6:70,861,314	T/C	—	uncertain significance
rs780077270	6:70,861,316	G/A	—	uncertain significance

Showing 100 of 168 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.