COL7A1

collagen type VII alpha 1 chain

Summary

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]

Known Variants4,160 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2043503119	3:48,601,569	C/A	—	uncertain significance
rs1803298	3:48,601,623	C/G	—	benign
rs545650545	3:48,601,677	G/T	—	uncertain significance
rs377441767	3:48,601,734	G/A	—	uncertain significance
rs1575413305	3:48,601,752	C/T	—	uncertain significance
rs74780677	3:48,601,774	G/A	—	benign
rs886058627	3:48,601,799	T/A	—	uncertain significance
rs2530790146	3:48,601,840	C/T	—	likely benign
rs1441002372	3:48,601,850	C/A	—	uncertain significance
rs148536949	3:48,601,858	G/A	—	likely benign
rs201658800	3:48,601,861	G/A	—	likely benign
rs2043514429	3:48,601,863	G/C	—	likely benign
rs1226656124	3:48,601,864	G/A	—	likely benign
rs2530790469	3:48,601,873	G/T	—	likely benign
rs762027571	3:48,602,196	G/A	—	likely benign
rs770156601	3:48,602,199	G/C	—	likely benign
rs773093117	3:48,602,202	G/T	—	likely benign
rs1270565315	3:48,602,206	C/A	—	likely benign
rs2530794615	3:48,602,207	A/G	—	likely benign
rs866959368	3:48,602,212	A/C	—	uncertain significance
rs1171778175	3:48,602,214	A/T	—	conflicting classifications of pathogenicity
rs766321543	3:48,602,217	T/C	—	uncertain significance
rs2107625132	3:48,602,220	C/T	—	likely benign
rs1575414031	3:48,602,225	G/C	—	uncertain significance
rs138568420	3:48,602,226	G/C	—	benign
rs2043528780	3:48,602,227	C/A	—	uncertain significance
rs767051948	3:48,602,231	G/A	—	conflicting classifications of pathogenicity
rs2043529079	3:48,602,232	G/A	—	likely benign
rs903839030	3:48,602,234	C/A	—	uncertain significance
rs1310338402	3:48,602,237	C/G	—	uncertain significance
rs2530794933	3:48,602,238	C/A	—	likely benign
rs752160116	3:48,602,240	G/A	—	likely benign
rs370048035	3:48,602,241	G/A	—	likely benign
rs145381088	3:48,602,243	G/A	—	conflicting classifications of pathogenicity
rs2530795024	3:48,602,244	T/A	—	likely benign
rs2043530046	3:48,602,248	C/A	—	pathogenic
rs758740269	3:48,602,251	C/T	—	conflicting classifications of pathogenicity
rs1225933099	3:48,602,252	G/A	—	uncertain significance
rs150903058	3:48,602,254	C/T	—	conflicting classifications of pathogenicity
rs150635097	3:48,602,255	G/A	—	conflicting classifications of pathogenicity
rs2530795252	3:48,602,257	T/A	—	uncertain significance
rs2530795314	3:48,602,264	C/T	—	uncertain significance
rs2107625297	3:48,602,265	C/T	—	likely benign
rs2107625326	3:48,602,271	G/C	—	likely benign
rs748201527	3:48,602,273	T/C	—	uncertain significance
rs2107625339	3:48,602,274	C/T	—	likely benign
rs1244725161	3:48,602,275	C/T	—	uncertain significance
rs1471022662	3:48,602,277	A/G	—	likely benign
rs1177760993	3:48,602,278	A/G	—	uncertain significance
rs572217586	3:48,602,282	G/A	—	uncertain significance
rs2530795666	3:48,602,285	T/C	—	uncertain significance
rs2530795690	3:48,602,286	G/A	—	likely benign
rs770841305	3:48,602,287	G/A	—	uncertain significance
rs2530795726	3:48,602,289	A/G	—	likely benign
rs2530795855	3:48,602,302	C/T	—	uncertain significance
rs1242922135	3:48,602,305	C/A	—	conflicting classifications of pathogenicity
rs139416916	3:48,602,308	T/C	—	uncertain significance
rs760142678	3:48,602,318	G/C	—	uncertain significance
rs2530796203	3:48,602,322	A/T	—	pathogenic
rs140781372	3:48,602,325	G/C	—	likely benign
rs756970724	3:48,602,327	C/T	—	likely benign
rs2107625504	3:48,602,349	C/A	—	likely benign
rs147911102	3:48,602,350	C/T	—	conflicting classifications of pathogenicity
rs2043534139	3:48,602,355	G/C	—	pathogenic
rs755464659	3:48,602,358	C/A	—	likely pathogenic
rs2530796643	3:48,602,361	G/A	—	likely benign
rs748706824	3:48,602,363	G/A	—	uncertain significance
rs2530796791	3:48,602,364	C/T	—	likely benign
rs938541239	3:48,602,366	G/A	—	likely benign
rs2107625597	3:48,602,367	G/C	—	likely benign
rs756244275	3:48,602,368	G/A	—	uncertain significance
rs2043535071	3:48,602,370	G/A	—	likely benign
rs373940098	3:48,602,373	G/A	—	likely benign
rs2107625632	3:48,602,377	G/A	—	uncertain significance
rs749519562	3:48,602,380	C/T	—	conflicting classifications of pathogenicity
rs1294205828	3:48,602,387	C/T	—	uncertain significance
rs771286848	3:48,602,399	G/A	—	uncertain significance
rs2530797148	3:48,602,400	C/T	—	likely benign
rs886058628	3:48,602,403	G/T	—	uncertain significance
rs774144118	3:48,602,408	A/G	—	likely pathogenic
rs2107625767	3:48,602,418	G/T	—	likely benign
rs2107625791	3:48,602,422	A/G	—	likely benign
rs771938414	3:48,602,423	T/C	—	likely benign
rs2530797416	3:48,602,424	G/A	—	likely benign
rs2043537411	3:48,602,425	G/C	—	likely benign
rs1162486846	3:48,602,426	G/A	—	likely benign
rs2530797531	3:48,602,433	T/C	—	likely benign
rs896727342	3:48,602,516	C/T	—	likely benign
rs41290684	3:48,602,519	C/T	—	benign
rs2530798510	3:48,602,522	T/C	—	likely benign
rs1001325189	3:48,602,527	G/A	—	likely benign
rs777935673	3:48,602,529	C/T	—	likely benign
rs749395019	3:48,602,531	C/G	—	likely benign
rs2107626390	3:48,602,532	C/T	—	likely benign
rs2107626397	3:48,602,534	A/G	—	likely benign
rs778969774	3:48,602,550	T/C	—	uncertain significance
rs746146532	3:48,602,551	C/T	—	conflicting classifications of pathogenicity
rs771747896	3:48,602,552	C/G	—	uncertain significance
rs2530799093	3:48,602,553	C/T	—	pathogenic
rs2043544882	3:48,602,558	A/G	—	likely benign

Showing 100 of 4,160 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.