GSDME

gasdermin E

Summary

Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants296 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886062221	7:24,738,038	T/C	—	uncertain significance
rs886062222	7:24,738,062	A/C	—	uncertain significance
rs117584512	7:24,738,108	G/A	—	uncertain significance
rs6957782	7:24,738,118	G/A	—	benign
rs12979	7:24,738,164	C/G	—	benign
rs144061292	7:24,738,197	A/G	—	benign
rs538502935	7:24,738,216	A/G	—	likely benign
rs144928530	7:24,738,299	C/G	—	likely benign
rs534617327	7:24,738,312	A/C	—	uncertain significance
rs554412975	7:24,738,319	G/T	—	uncertain significance
rs573722628	7:24,738,324	A/C	—	likely benign
rs577672103	7:24,738,346	T/C	—	uncertain significance
rs17149888	7:24,738,372	G/A	—	benign
rs886062223	7:24,738,385	T/C	—	uncertain significance
rs1788738667	7:24,738,406	A/G	—	uncertain significance
rs10266655	7:24,738,558	T/C	—	benign
rs541774350	7:24,738,564	A/C	—	likely benign
rs115865539	7:24,738,573	G/A	—	likely benign
rs142378204	7:24,738,613	C/T	—	likely benign
rs17274530	7:24,738,615	G/A	—	benign
rs199887441	7:24,738,621	C/T	—	likely benign
rs2534950810	7:24,738,664	A/G	—	uncertain significance
rs753365638	7:24,738,682	A/C	—	conflicting classifications of pathogenicity
rs752354361	7:24,738,693	A/G	—	likely benign
rs1788752548	7:24,738,695	G/T	—	uncertain significance
rs1350016729	7:24,738,707	A/C	—	uncertain significance
rs2534951040	7:24,738,718	T/C	—	uncertain significance
rs746321505	7:24,738,719	C/T	—	uncertain significance
rs727504956	7:24,738,720	C/T	—	likely benign
rs148824063	7:24,738,731	C/G	—	uncertain significance
rs202208422	7:24,738,739	A/G	—	uncertain significance
rs768667504	7:24,738,740	C/T	—	uncertain significance
rs776603496	7:24,738,773	C/G	—	uncertain significance
rs727502953	7:24,738,781	A/G	—	uncertain significance
rs764724618	7:24,738,787	C/T	—	uncertain significance
rs151328414	7:24,738,788	G/C	—	uncertain significance
rs140643388	7:24,738,794	C/T	—	uncertain significance
rs61731036	7:24,738,802	A/T	—	benign
rs780683974	7:24,738,805	C/A	—	uncertain significance
rs749815627	7:24,738,811	G/A	—	uncertain significance
rs772301212	7:24,738,830	A/G	—	likely benign
rs770774669	7:24,738,844	A/G	—	uncertain significance
rs1788760453	7:24,738,847	T/A	—	uncertain significance
rs779992896	7:24,738,852	T/C	—	likely benign
rs759400101	7:24,738,858	A/G	—	likely benign
rs1420984721	7:24,738,872	C/T	—	uncertain significance
rs1265344919	7:24,738,875	G/A	—	uncertain significance
rs762628182	7:24,738,877	A/G	—	likely benign
rs191556083	7:24,739,159	A/G	—	likely benign
rs138759906	7:24,739,182	T/C	—	benign
rs17274565	7:24,739,589	C/A	—	—
rs2721819	7:24,742,128	G/A	—	benign
rs115385802	7:24,742,268	A/C	—	likely benign
rs562789041	7:24,742,359	C/A	—	likely benign
rs886062225	7:24,742,383	T/C	—	uncertain significance
rs2534962710	7:24,742,384	G/A	—	uncertain significance
rs551546553	7:24,742,388	C/T	—	likely benign
rs775797918	7:24,742,392	G/A	—	uncertain significance
rs727505338	7:24,742,418	A/G	—	likely benign
rs566450742	7:24,742,423	C/T	—	uncertain significance
rs199971778	7:24,742,428	A/G	—	conflicting classifications of pathogenicity
rs17149912	7:24,742,436	C/T	—	benign
rs71535705	7:24,742,437	G/A	—	benign
rs140321823	7:24,742,438	C/T	—	uncertain significance
rs778523430	7:24,742,439	G/A	—	likely benign
rs144651293	7:24,742,444	C/T	—	conflicting classifications of pathogenicity
rs2534963371	7:24,742,458	G/A	—	uncertain significance
rs10267660	7:24,742,514	C/T	—	benign
rs2240005	7:24,742,553	A/G	—	benign
rs66851582	7:24,742,576	T/C	—	benign
rs2074142	7:24,742,585	T/C	—	benign
rs80124647	7:24,742,660	G/C	—	likely benign
rs59130124	7:24,742,757	G/A	—	likely benign
rs535226367	7:24,745,615	A/C	—	benign
rs555426339	7:24,745,617	A/G	—	benign
rs575388784	7:24,745,619	A/T	—	benign
rs544390310	7:24,745,626	A/T	—	benign
rs564225443	7:24,745,633	G/T	—	benign
rs578005831	7:24,745,635	G/T	—	benign
rs191263837	7:24,745,668	C/G	—	likely benign
rs115073530	7:24,745,717	C/T	—	likely benign
rs114554049	7:24,745,728	C/T	—	benign
rs370312532	7:24,745,784	C/T	—	likely benign
rs73288039	7:24,745,786	T/C	—	likely benign
rs397516910	7:24,745,794	T/A	—	likely benign
rs777359423	7:24,745,798	C/T	—	conflicting classifications of pathogenicity
rs1562687295	7:24,745,799	T/C	—	pathogenic
rs2534973082	7:24,745,800	T/A	—	uncertain significance
rs1554322596	7:24,745,802	C/T	—	pathogenic
rs368035633	7:24,745,807	G/A	—	conflicting classifications of pathogenicity
rs2534973159	7:24,745,822	G/A	—	likely benign
rs371802634	7:24,745,830	C/T	—	uncertain significance
rs926529653	7:24,745,836	T/C	—	uncertain significance
rs138980048	7:24,745,864	G/A	—	conflicting classifications of pathogenicity
rs142107866	7:24,745,865	G/A	—	uncertain significance
rs146399987	7:24,745,868	C/T	—	conflicting classifications of pathogenicity
rs201166708	7:24,745,871	G/A	—	uncertain significance
rs756768069	7:24,745,882	C/G	—	uncertain significance
rs2128047712	7:24,745,884	G/C	—	pathogenic
rs780811982	7:24,745,886	A/G	—	uncertain significance

Showing 100 of 296 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.