COL27A1

collagen type XXVII alpha 1 chain

Summary

This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]

Known Variants1,838 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2490419298	9:116,918,234	G/A	—	uncertain significance
rs538968859	9:116,918,237	G/A	—	uncertain significance
rs1848091276	9:116,918,241	G/C	—	uncertain significance
rs1848091410	9:116,918,242	A/G	—	likely benign
rs2490419478	9:116,918,245	G/A	—	likely benign
rs1848091864	9:116,918,248	G/A	—	likely benign
rs558566848	9:116,918,250	G/T	—	likely benign
rs2134975477	9:116,918,251	G/C	—	likely benign
rs770480240	9:116,918,254	G/C	—	likely benign
rs759255537	9:116,918,257	C/G	—	likely benign
rs982589829	9:116,918,266	A/G	—	likely benign
rs2490420193	9:116,918,269	G/A	—	likely benign
rs1848094842	9:116,918,272	G/T	—	likely benign
rs2134975860	9:116,918,275	G/A	—	likely benign
rs767203384	9:116,918,277	C/T	—	uncertain significance
rs2134975917	9:116,918,281	G/C	—	likely benign
rs762262249	9:116,918,284	G/A	—	likely benign
rs941086447	9:116,918,287	C/G	—	likely benign
rs758537611	9:116,918,290	G/C	—	likely benign
rs1848097390	9:116,918,293	G/T	—	likely pathogenic
rs1848097795	9:116,918,296	A/G	—	uncertain significance
rs2134976265	9:116,918,297	G/C	—	uncertain significance
rs755190082	9:116,918,299	A/G	—	likely benign
rs867142168	9:116,918,300	C/G	—	likely benign
rs781496001	9:116,918,301	G/T	—	likely benign
rs2134976397	9:116,918,304	C/T	—	likely benign
rs1588533493	9:116,918,309	G/T	—	likely benign
rs2490421082	9:116,918,312	C/T	—	likely benign
rs528148931	9:116,924,707	G/A	—	—
rs1431821	9:116,924,781	A/G	—	benign
rs1848583438	9:116,924,977	G/T	—	likely benign
rs2490483514	9:116,924,979	G/T	—	likely benign
rs753015325	9:116,924,984	C/G	—	likely benign
rs1848584596	9:116,924,986	G/C	—	likely benign
rs1848584817	9:116,924,989	C/A	—	likely benign
rs200654328	9:116,924,991	C/A	—	likely benign
rs2135027384	9:116,924,994	G/A	—	likely pathogenic
rs1402569482	9:116,924,998	G/T	—	likely benign
rs569764168	9:116,925,022	C/T	—	likely benign
rs745344423	9:116,925,025	G/T	—	likely benign
rs2135027901	9:116,925,031	C/T	—	likely benign
rs1564409858	9:116,925,034	T/C	—	likely benign
rs2135027968	9:116,925,037	C/T	—	likely benign
rs995252242	9:116,925,046	C/T	—	likely benign
rs773653573	9:116,925,048	C/T	—	likely benign
rs200096843	9:116,925,049	C/A	—	likely benign
rs147411821	9:116,925,074	C/G	—	likely benign
rs1848591778	9:116,925,077	T/C	—	likely benign
rs764327380	9:116,925,082	T/C	—	likely benign
rs10982089	9:116,929,821	G/A	—	benign
rs367798942	9:116,929,952	T/C	—	likely benign
rs779873134	9:116,929,955	T/C	—	likely benign
rs751040547	9:116,929,960	C/A	—	likely benign
rs2490545972	9:116,929,961	C/T	—	likely benign
rs754485502	9:116,929,962	C/T	—	likely benign
rs2490546077	9:116,929,964	C/T	—	likely benign
rs1023106800	9:116,929,976	C/T	—	likely benign
rs747870284	9:116,929,979	C/T	—	likely benign
rs141061686	9:116,929,982	C/T	—	likely benign
rs2490546495	9:116,929,985	G/A	—	likely benign
rs371597072	9:116,929,986	C/T	—	uncertain significance
rs141549766	9:116,929,987	G/A	—	benign
rs1848988135	9:116,929,988	G/T	—	likely benign
rs2490546780	9:116,929,994	C/G	—	likely benign
rs1335391667	9:116,929,997	C/T	—	likely benign
rs1848988918	9:116,930,000	C/T	—	likely benign
rs2490546871	9:116,930,003	G/A	—	pathogenic
rs150242638	9:116,930,005	C/T	—	conflicting classifications of pathogenicity
rs775896019	9:116,930,006	G/A	—	likely benign
rs2490547046	9:116,930,009	G/A	—	likely benign
rs138977561	9:116,930,012	C/T	—	likely benign
rs74339956	9:116,930,013	G/A	—	benign
rs564819689	9:116,930,015	G/A	—	likely benign
rs765454716	9:116,930,021	T/C	—	likely benign
rs762687889	9:116,930,027	C/G	—	likely benign
rs1176269679	9:116,930,030	G/A	—	likely benign
rs754520598	9:116,930,034	G/A	—	uncertain significance
rs2490547761	9:116,930,038	T/C	—	uncertain significance
rs1848992758	9:116,930,040	C/A	—	uncertain significance
rs200695070	9:116,930,050	C/T	—	uncertain significance
rs201660579	9:116,930,051	G/A	—	benign
rs2135070060	9:116,930,054	C/T	—	likely benign
rs2490548208	9:116,930,063	T/C	—	likely benign
rs137868129	9:116,930,065	C/T	—	uncertain significance
rs190770493	9:116,930,066	G/A	—	likely benign
rs747530985	9:116,930,070	C/T	—	likely benign
rs776631973	9:116,930,075	C/A	—	likely benign
rs143398547	9:116,930,076	C/T	—	uncertain significance
rs368213196	9:116,930,077	G/A	—	uncertain significance
rs372211916	9:116,930,084	G/A	—	likely benign
rs762785718	9:116,930,085	G/A	—	uncertain significance
rs74930448	9:116,930,092	C/T	—	uncertain significance
rs79824663	9:116,930,093	G/C	—	likely benign
rs201917514	9:116,930,099	C/T	—	likely benign
rs2567707	9:116,930,100	A/G	—	benign
rs1041670066	9:116,930,104	T/C	—	uncertain significance
rs2490549137	9:116,930,108	T/G	—	likely benign
rs142192832	9:116,930,111	C/T	—	likely benign
rs780214288	9:116,930,112	G/A	—	uncertain significance
rs1254313047	9:116,930,114	C/G	—	likely benign

Showing 100 of 1,838 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.