LYZ

lysozyme

Summary

This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014]

Known Variants60 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10878967	12:69,740,869	T/C	upstream gene variant	—
rs513342	12:69,742,188	T/C	—	benign
rs58131341	12:69,742,198	C/G	—	benign
rs531119114	12:69,742,228	G/T	—	conflicting classifications of pathogenicity
rs773204148	12:69,742,278	G/C	—	likely benign
rs367859472	12:69,742,283	G/A	—	uncertain significance
rs372724691	12:69,742,333	A/G	—	likely benign
rs367682582	12:69,743,902	A/T	—	conflicting classifications of pathogenicity
rs764263034	12:69,743,907	G/A	—	conflicting classifications of pathogenicity
rs374990260	12:69,743,926	C/T	—	uncertain significance
rs2499097767	12:69,743,939	A/G	—	uncertain significance
rs387906535	12:69,743,950	G/C	missense variant	uncertain significance
rs1349579951	12:69,743,960	C/G	—	uncertain significance
rs121913547	12:69,743,972	T/C	missense variant	pathogenic
rs121913549	12:69,743,974	T/A	missense variant	pathogenic
rs1363507110	12:69,743,981	T/C	—	conflicting classifications of pathogenicity
rs387906536	12:69,743,995	T/A	missense variant	pathogenic
rs121913548	12:69,744,004	G/C	missense variant	—
rs1800973	12:69,744,014	A/C	—	likely benign
rs141911537	12:69,744,020	G/A	—	uncertain significance
rs776898103	12:69,744,023	C/G	—	conflicting classifications of pathogenicity
rs150655870	12:69,744,037	C/A	—	uncertain significance
rs529716080	12:69,746,047	G/A	—	uncertain significance
rs551709281	12:69,746,934	G/A	—	uncertain significance
rs770942584	12:69,746,944	G/C	—	uncertain significance
rs2499101694	12:69,746,964	G/C	—	uncertain significance
rs367623154	12:69,746,967	G/C	—	benign
rs750113375	12:69,746,984	A/G	—	likely benign
rs762616173	12:69,746,986	G/A	—	likely benign
rs1874886327	12:69,747,121	A/G	—	uncertain significance
rs568058282	12:69,747,168	G/A	—	benign
rs710794	12:69,747,177	C/T	—	benign
rs183375295	12:69,747,190	A/G	—	benign
rs886049804	12:69,747,220	C/T	—	uncertain significance
rs576522577	12:69,747,241	C/A	—	uncertain significance
rs188313797	12:69,747,265	G/C	—	uncertain significance
rs919388445	12:69,747,299	C/T	—	uncertain significance
rs982245735	12:69,747,308	G/A	—	uncertain significance
rs886049805	12:69,747,329	C/T	—	uncertain significance
rs762377090	12:69,747,330	G/A	—	uncertain significance
rs1874896191	12:69,747,403	G/T	—	uncertain significance
rs193040437	12:69,747,412	G/T	—	benign
rs183441118	12:69,747,414	G/A	—	benign
rs534565279	12:69,747,417	C/A	—	benign
rs980457915	12:69,747,425	C/T	—	uncertain significance
rs886049806	12:69,747,439	T/A	—	uncertain significance
rs886049807	12:69,747,441	T/G	—	uncertain significance
rs531233279	12:69,747,460	G/A	—	benign
rs554855169	12:69,747,469	C/T	—	uncertain significance
rs567541896	12:69,747,520	G/A	—	benign
rs961590974	12:69,747,543	C/T	—	uncertain significance
rs886049808	12:69,747,564	G/T	—	uncertain significance
rs192668989	12:69,747,607	T/C	—	uncertain significance
rs8612	12:69,747,654	G/T	—	benign
rs1874909219	12:69,747,770	A/G	—	uncertain significance
rs886049810	12:69,747,813	C/A	—	uncertain significance
rs1384	12:69,747,834	T/C	—	benign
rs959564680	12:69,747,865	C/T	—	uncertain significance
rs188271229	12:69,747,889	T/C	—	benign
rs1874912403	12:69,747,890	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.