COL3A1

collagen type III alpha 1 chain

Summary

This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]

Known Variants2,457 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs13306264	2:189,838,800	A/G	—	likely benign
rs549951495	2:189,839,098	T/G	—	benign
rs41265577	2:189,839,115	G/A	—	uncertain significance
rs41265575	2:189,839,136	G/A	—	likely benign
rs41272793	2:189,839,206	A/G	—	uncertain significance
rs2469084864	2:189,839,207	T/C	—	uncertain significance
rs1687765120	2:189,839,216	A/T	—	uncertain significance
rs2153500007	2:189,839,224	C/A	—	uncertain significance
rs1461198652	2:189,839,228	G/A	—	uncertain significance
rs751315184	2:189,839,229	T/A	—	uncertain significance
rs892404442	2:189,839,233	A/C	—	uncertain significance
rs1687765852	2:189,839,237	G/A	—	uncertain significance
rs2153500011	2:189,839,238	G/A	—	uncertain significance
rs754759981	2:189,839,239	G/A	—	likely benign
rs587779677	2:189,839,245	G/A	stop gained	pathogenic
rs781047496	2:189,839,251	T/G	—	likely benign
rs2153500016	2:189,839,253	T/C	—	uncertain significance
rs1343634872	2:189,839,254	C/T	—	likely benign
rs547373542	2:189,839,255	G/A	—	uncertain significance
rs1231364424	2:189,839,256	C/G	—	uncertain significance
rs1278335125	2:189,839,258	C/G	—	uncertain significance
rs1311785540	2:189,839,265	A/T	—	uncertain significance
rs886038951	2:189,839,267	C/T	—	uncertain significance
rs1687767062	2:189,839,268	C/G	—	uncertain significance
rs1300339107	2:189,839,270	A/G	—	uncertain significance
rs1342128671	2:189,839,273	A/G	—	uncertain significance
rs1296337954	2:189,839,277	T/A	—	uncertain significance
rs748787122	2:189,839,289	A/G	—	uncertain significance
rs1687767912	2:189,839,291	G/C	—	uncertain significance
rs1399291719	2:189,839,292	A/G	—	uncertain significance
rs2469085127	2:189,839,298	A/G	—	uncertain significance
rs1687768235	2:189,839,301	A/T	—	uncertain significance
rs747389214	2:189,839,304	T/C	—	likely benign
rs2153500033	2:189,839,310	T/C	—	likely benign
rs41265571	2:189,839,498	T/C	—	benign
rs16830973	2:189,849,330	A/G	—	benign
rs145536351	2:189,849,355	T/C	—	likely benign
rs59459440	2:189,849,417	A/G	—	likely benign
rs28763874	2:189,849,465	G/A	—	likely benign
rs1483636821	2:189,849,468	A/T	—	likely benign
rs28763875	2:189,849,470	C/T	—	benign
rs566189676	2:189,849,473	A/C	—	likely benign
rs2469105511	2:189,849,477	G/C	—	likely benign
rs1241543816	2:189,849,478	T/C	—	likely benign
rs2469105532	2:189,849,483	C/T	—	likely benign
rs2153501340	2:189,849,484	A/T	—	likely pathogenic
rs1559052551	2:189,849,485	G/C	—	conflicting classifications of pathogenicity
rs759521597	2:189,849,486	C/A	—	uncertain significance
rs1060500200	2:189,849,487	—	—	pathogenic
rs752574994	2:189,849,490	T/C	—	likely benign
rs760482912	2:189,849,493	A/C	—	conflicting classifications of pathogenicity
rs374537884	2:189,849,497	G/C	—	conflicting classifications of pathogenicity
rs2153501342	2:189,849,501	G/A	—	uncertain significance
rs1296448513	2:189,849,502	T/C	—	likely benign
rs752110396	2:189,849,507	A/G	—	uncertain significance
rs368703012	2:189,849,509	C/A	—	uncertain significance
rs2469105633	2:189,849,515	C/G	—	uncertain significance
rs1060500205	2:189,849,516	A/T	—	uncertain significance
rs2153501346	2:189,849,517	G/C	—	uncertain significance
rs755509578	2:189,849,519	C/A	—	uncertain significance
rs141241764	2:189,849,520	C/G	—	likely benign
rs2469105653	2:189,849,523	T/G	—	likely pathogenic
rs763720540	2:189,849,524	G/A	—	uncertain significance
rs201380807	2:189,849,525	C/T	—	conflicting classifications of pathogenicity
rs138115610	2:189,849,526	G/A	—	likely benign
rs794728035	2:189,849,527	G/T	—	uncertain significance
rs770961095	2:189,849,529	T/C	—	likely benign
rs2469105686	2:189,849,532	A/C	—	uncertain significance
rs774591764	2:189,849,535	T/C	—	likely benign
rs79632685	2:189,849,536	G/A	—	likely benign
rs1559052609	2:189,849,540	G/A	—	pathogenic
rs1199014910	2:189,849,550	A/T	—	uncertain significance
rs1234344050	2:189,849,551	C/G	—	likely pathogenic
rs2469105718	2:189,849,555	G/C	—	uncertain significance
rs559102186	2:189,849,556	C/A	—	pathogenic
rs2469105723	2:189,849,559	A/G	—	likely benign
rs2469105728	2:189,849,562	A/G	—	uncertain significance
rs1173687812	2:189,849,572	G/A	—	uncertain significance
rs1553506856	2:189,849,581	T/G	—	uncertain significance
rs762028131	2:189,849,584	G/A	—	uncertain significance
rs753474870	2:189,849,589	C/T	—	conflicting classifications of pathogenicity
rs764749176	2:189,849,592	C/T	—	likely benign
rs1688031625	2:189,849,593	G/A	—	uncertain significance
rs1440480352	2:189,849,599	A/G	—	uncertain significance
rs1050728178	2:189,849,600	T/C	—	uncertain significance
rs2153501357	2:189,849,602	A/C	—	uncertain significance
rs2469106201	2:189,849,603	T/G	—	uncertain significance
rs372269408	2:189,849,604	A/G	—	conflicting classifications of pathogenicity
rs1085307576	2:189,849,606	G/C	—	uncertain significance
rs376603102	2:189,849,609	A/G	—	uncertain significance
rs368299739	2:189,849,610	C/A	—	uncertain significance
rs112714742	2:189,849,611	G/T	—	uncertain significance
rs2153501359	2:189,849,615	A/G	—	uncertain significance
rs1688032482	2:189,849,622	A/G	—	likely benign
rs200246388	2:189,849,623	G/C	—	conflicting classifications of pathogenicity
rs2469106248	2:189,849,624	A/G	—	uncertain significance
rs886038228	2:189,849,625	C/T	—	conflicting classifications of pathogenicity
rs1688032683	2:189,849,628	C/T	—	likely benign
rs141335164	2:189,849,631	C/A	—	likely benign
rs142045411	2:189,849,632	A/G	—	conflicting classifications of pathogenicity

Showing 100 of 2,457 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.