COL4A5

collagen type IV alpha 5 chain

Summary

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]

Known Variants2,092 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs372416097	X:107,683,340	C/T	—	uncertain significance
rs104886050	X:107,683,356	A/G	missense variant	pathogenic
rs1569469409	X:107,683,357	T/A	—	pathogenic
rs104886376	X:107,683,357	—	—	—
rs2523832524	X:107,683,358	G/T	—	pathogenic
rs763257714	X:107,683,364	G/A	—	likely benign
rs2523832601	X:107,683,365	C/A	—	uncertain significance
rs104886049	X:107,683,368	G/T	stop gained	—
rs2523832779	X:107,683,377	C/T	—	likely benign
rs2523832859	X:107,683,385	C/T	—	likely benign
rs769068931	X:107,683,387	G/T	—	uncertain significance
rs773115274	X:107,683,388	C/T	—	benign
rs199693699	X:107,683,389	T/C	—	likely benign
rs760570519	X:107,683,395	T/G	—	uncertain significance
rs1463628237	X:107,683,401	G/C	—	uncertain significance
rs372737604	X:107,683,403	C/G	—	likely benign
rs104886427	X:107,683,404	—	—	pathogenic
rs2064373024	X:107,683,406	G/T	—	likely benign
rs2523833160	X:107,683,410	C/G	—	uncertain significance
rs766114864	X:107,683,412	T/C	—	likely benign
rs753738687	X:107,683,413	T/C	—	uncertain significance
rs2523833248	X:107,683,415	G/A	—	pathogenic
rs759402395	X:107,683,418	G/A	—	likely benign
rs1226348837	X:107,683,421	G/A	—	conflicting classifications of pathogenicity
rs1276860807	X:107,683,431	G/A	—	likely benign
rs1569469478	X:107,683,436	G/A	—	uncertain significance
rs281874765	X:107,683,437	G/C	—	pathogenic
rs1569469484	X:107,683,440	A/C	—	likely pathogenic
rs764710955	X:107,683,447	C/A	—	likely benign
rs777451585	X:107,683,456	C/T	—	likely benign
rs2147448578	X:107,683,492	C/A	—	likely benign
rs3747407	X:107,683,564	T/C	—	benign
rs16985514	X:107,782,764	C/T	—	benign
rs2524081875	X:107,782,960	T/C	—	likely benign
rs2065508362	X:107,782,963	C/T	—	likely benign
rs2524081932	X:107,782,965	C/T	—	likely benign
rs1447272372	X:107,782,969	C/T	—	likely benign
rs761942249	X:107,782,972	A/G	—	likely benign
rs2524082011	X:107,782,975	G/A	—	pathogenic
rs869025333	X:107,782,976	G/A	missense variant	uncertain significance
rs104886048	X:107,782,981	C/A	stop gained	—
rs150305490	X:107,782,983	A/G	—	conflicting classifications of pathogenicity
rs104886047	X:107,782,984	T/G	stop gained	pathogenic
rs2147657533	X:107,782,985	G/T	—	likely pathogenic
rs2065509123	X:107,782,987	G/T	—	likely benign
rs2524082145	X:107,782,996	A/G	—	likely benign
rs2524082163	X:107,782,999	A/T	—	likely benign
rs759512115	X:107,783,001	C/A	—	pathogenic
rs1164696602	X:107,783,002	A/G	—	likely benign
rs765197123	X:107,783,005	G/A	—	likely benign
rs1444428109	X:107,783,007	G/T	—	uncertain significance
rs104886042	X:107,783,013	—	—	—
rs371351149	X:107,783,018	G/A	—	conflicting classifications of pathogenicity
rs752179960	X:107,783,026	A/C	—	conflicting classifications of pathogenicity
rs2524082382	X:107,783,027	G/A	—	likely pathogenic
rs2524082406	X:107,783,028	G/A	—	likely pathogenic
rs762399773	X:107,783,030	G/T	—	pathogenic
rs2147657717	X:107,783,031	A/G	—	likely benign
rs2524082442	X:107,783,032	A/G	—	likely benign
rs1486934440	X:107,783,035	G/T	—	uncertain significance
rs2065509989	X:107,783,036	G/A	—	pathogenic
rs2147657763	X:107,783,037	T/C	—	pathogenic
rs2524082514	X:107,783,042	T/A	—	likely benign
rs145783977	X:107,783,292	A/G	—	likely benign
rs2524162151	X:107,802,280	T/G	—	likely benign
rs1047699266	X:107,802,288	T/C	—	uncertain significance
rs2524162203	X:107,802,289	T/C	—	likely benign
rs780759600	X:107,802,290	G/T	—	likely benign
rs104886323	X:107,802,293	G/A	—	uncertain significance
rs281874669	X:107,802,294	G/A	missense variant	pathogenic
rs749839339	X:107,802,296	A/G	—	benign
rs1569486475	X:107,802,298	A/G	—	uncertain significance
rs2147722129	X:107,802,299	G/T	—	uncertain significance
rs2524162348	X:107,802,300	A/C	—	likely benign
rs2147722151	X:107,802,303	G/A	—	likely pathogenic
rs2524162410	X:107,802,308	T/C	—	likely benign
rs1270497316	X:107,802,311	A/G	—	likely benign
rs2524162428	X:107,802,312	G/C	—	pathogenic
rs104886043	X:107,802,313	G/A	missense variant	pathogenic
rs779142914	X:107,802,316	T/G	—	uncertain significance
rs2524162484	X:107,802,317	G/A	—	likely benign
rs372805446	X:107,802,324	C/T	—	conflicting classifications of pathogenicity
rs867718675	X:107,802,330	G/A	—	likely pathogenic
rs2065868148	X:107,802,334	T/A	—	likely pathogenic
rs772246749	X:107,802,347	A/G	—	likely benign
rs2065868609	X:107,802,364	C/T	—	uncertain significance
rs764172210	X:107,802,365	G/A	—	benign
rs1052281498	X:107,802,372	C/T	—	uncertain significance
rs137930367	X:107,802,373	G/T	—	uncertain significance
rs2524162968	X:107,802,376	G/T	—	likely pathogenic
rs2147722497	X:107,802,380	A/T	—	likely pathogenic
rs104886349	X:107,802,384	G/A	—	pathogenic
rs763538451	X:107,802,385	T/C	—	pathogenic
rs376366035	X:107,802,386	A/G	—	conflicting classifications of pathogenicity
rs2065932552	X:107,807,092	A/G	—	likely benign
rs111438962	X:107,807,095	A/C	—	likely benign
rs2065932878	X:107,807,102	C/G	—	likely benign
rs2524179338	X:107,807,103	A/C	—	likely benign
rs2065933012	X:107,807,110	A/G	—	pathogenic
rs104886350	X:107,807,111	G/T	—	uncertain significance

Showing 100 of 2,092 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.