BGN

biglycan

Summary

This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in bone growth, muscle development and regeneration, and collagen fibril assembly in multiple tissues. This protein may also regulate inflammation and innate immunity. Additionally, the encoded protein may contribute to atherosclerosis and aortic valve stenosis in human patients. This gene and the related gene decorin are thought to be the result of a gene duplication. [provided by RefSeq, Nov 2015]

Known Variants292 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11796997	X:152,759,861	G/A	regulatory region variant	—
rs113300903	X:152,768,464	C/T	intron variant	—
rs2980051	X:152,769,754	A/G	—	benign
rs2980052	X:152,769,870	G/A	—	benign
rs181456114	X:152,770,064	C/G	—	likely benign
rs2521203165	X:152,770,093	T/C	—	uncertain significance
rs886037823	X:152,770,094	G/A	stop gained	pathogenic
rs1237471362	X:152,770,105	C/T	—	uncertain significance
rs781931209	X:152,770,106	G/A	—	uncertain significance
rs782237977	X:152,770,107	C/T	—	likely benign
rs199928539	X:152,770,110	C/A	—	uncertain significance
rs200211184	X:152,770,111	G/A	—	uncertain significance
rs782144541	X:152,770,115	C/T	—	uncertain significance
rs368228267	X:152,770,116	T/G	—	likely benign
rs2521203509	X:152,770,117	C/T	—	likely benign
rs1305457220	X:152,770,141	C/T	—	uncertain significance
rs2089785733	X:152,770,154	G/C	—	uncertain significance
rs782728797	X:152,770,157	G/C	—	uncertain significance
rs2124232146	X:152,770,161	C/G	—	uncertain significance
rs2124232156	X:152,770,164	G/A	—	likely pathogenic
rs782549135	X:152,770,179	C/G	—	uncertain significance
rs1011782727	X:152,770,180	G/A	—	uncertain significance
rs1230475012	X:152,770,184	G/C	—	uncertain significance
rs1556992632	X:152,770,194	G/A	—	uncertain significance
rs782535972	X:152,770,197	G/A	—	uncertain significance
rs145819764	X:152,770,200	C/T	—	likely benign
rs372321114	X:152,770,206	G/C	—	uncertain significance
rs2521204360	X:152,770,207	G/C	—	uncertain significance
rs34441665	X:152,770,209	A/G	—	benign
rs148867138	X:152,770,210	G/T	—	uncertain significance
rs2089786356	X:152,770,214	C/T	—	uncertain significance
rs376287190	X:152,770,215	G/A	—	likely benign
rs782684408	X:152,770,218	C/A	—	likely benign
rs2089786477	X:152,770,219	G/A	—	uncertain significance
rs368511428	X:152,770,227	C/A	—	likely benign
rs4833	X:152,770,230	G/A	—	benign
rs371932706	X:152,770,233	C/A	—	likely benign
rs374777271	X:152,770,245	G/A	—	likely benign
rs200429195	X:152,770,248	C/T	—	likely benign
rs782805520	X:152,770,252	G/C	—	uncertain significance
rs199564098	X:152,770,256	C/T	—	uncertain significance
rs201700911	X:152,770,258	C/G	—	uncertain significance
rs2124232550	X:152,770,262	C/A	—	uncertain significance
rs2124232561	X:152,770,263	C/T	—	likely benign
rs371600846	X:152,770,269	C/T	—	likely benign
rs782672273	X:152,770,270	G/A	—	conflicting classifications of pathogenicity
rs375209182	X:152,770,275	G/A	—	uncertain significance
rs782354774	X:152,770,284	C/T	—	likely benign
rs782424958	X:152,770,285	G/A	—	uncertain significance
rs1556992685	X:152,770,293	C/T	—	likely benign
rs782405568	X:152,770,303	C/T	—	uncertain significance
rs1399581114	X:152,770,311	T/C	—	likely benign
rs1556992691	X:152,770,312	C/T	—	pathogenic
rs2521205143	X:152,770,314	G/C	—	uncertain significance
rs141785227	X:152,770,320	C/T	—	likely benign
rs1295300381	X:152,770,321	G/A	—	uncertain significance
rs1350388500	X:152,770,323	C/A	—	uncertain significance
rs1164015835	X:152,770,326	G/A	—	conflicting classifications of pathogenicity
rs886037825	X:152,770,327	G/A	missense variant	pathogenic
rs2521205302	X:152,770,334	C/T	—	likely benign
rs781950984	X:152,770,335	C/T	—	likely benign
rs2124232780	X:152,770,340	G/C	—	likely benign
rs1556992702	X:152,770,344	T/C	—	likely benign
rs55857706	X:152,770,378	G/A	—	benign
rs2980053	X:152,770,402	A/G	—	benign
rs11156580	X:152,770,462	G/A	—	benign
rs113920542	X:152,770,543	C/T	—	likely benign
rs186350850	X:152,770,658	T/C	—	benign
rs782280015	X:152,770,681	G/A	—	uncertain significance
rs2089790832	X:152,770,683	G/T	—	likely benign
rs781926455	X:152,770,685	G/T	—	likely benign
rs1556992777	X:152,770,696	G/A	—	uncertain significance
rs2089791026	X:152,770,703	G/C	—	uncertain significance
rs202151631	X:152,770,707	G/T	—	uncertain significance
rs146073993	X:152,770,714	A/G	—	likely benign
rs2521208257	X:152,770,723	C/T	—	uncertain significance
rs2124233994	X:152,770,730	C/T	—	likely benign
rs782789915	X:152,770,732	C/A	—	uncertain significance
rs138787321	X:152,770,735	C/G	—	uncertain significance
rs1556992792	X:152,770,748	G/A	—	likely benign
rs2521208535	X:152,770,750	A/G	—	uncertain significance
rs1158522247	X:152,770,757	C/T	—	likely benign
rs782462887	X:152,770,758	G/A	—	uncertain significance
rs2521208636	X:152,770,763	C/T	—	likely benign
rs1469006247	X:152,770,766	C/T	—	likely benign
rs150272427	X:152,770,767	G/A	—	likely benign
rs782533603	X:152,770,769	G/C	—	uncertain significance
rs2521208746	X:152,770,772	C/T	—	likely benign
rs1255628710	X:152,770,774	G/A	—	uncertain significance
rs2089791798	X:152,770,779	G/A	—	uncertain significance
rs782696638	X:152,770,788	A/G	—	uncertain significance
rs782182766	X:152,770,790	G/C	—	likely benign
rs2521208871	X:152,770,792	G/A	—	uncertain significance
rs868971585	X:152,770,800	C/A	—	uncertain significance
rs782268995	X:152,770,808	C/T	—	uncertain significance
rs2089792021	X:152,770,809	G/T	—	likely pathogenic
rs370838225	X:152,770,814	G/A	—	conflicting classifications of pathogenicity
rs1556992831	X:152,770,817	C/T	—	likely benign
rs1602982604	X:152,770,824	G/A	—	likely benign
rs2269403	X:152,771,123	T/G	—	benign

Showing 100 of 292 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.