HIBCH

3-hydroxyisobutyryl-CoA hydrolase

Summary

This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Known Variants191 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11542	2:191,069,689	T/A	—	benign
rs114799177	2:191,069,751	G/C	—	likely benign
rs371007017	2:191,069,840	A/G	—	likely benign
rs2468618860	2:191,069,855	A/G	—	likely benign
rs768695844	2:191,069,865	C/T	—	uncertain significance
rs774513879	2:191,069,871	G/T	—	uncertain significance
rs2468618991	2:191,069,886	T/C	—	uncertain significance
rs142607404	2:191,069,901	G/A	—	uncertain significance
rs375193143	2:191,069,920	C/T	—	uncertain significance
rs1575690635	2:191,069,951	A/C	—	uncertain significance
rs1575690645	2:191,069,956	A/G	—	likely benign
rs750012707	2:191,069,966	G/A	—	likely benign
rs189691978	2:191,070,082	A/T	—	likely benign
rs6723320	2:191,073,465	T/C	—	benign
rs6723335	2:191,073,501	T/G	—	benign
rs1690455717	2:191,073,606	C/G	—	uncertain significance
rs13406709	2:191,073,613	A/T	—	likely benign
rs367938014	2:191,073,615	C/T	—	uncertain significance
rs371751000	2:191,073,616	G/A	—	conflicting classifications of pathogenicity
rs1260531370	2:191,073,617	C/A	—	uncertain significance
rs770114459	2:191,073,618	C/T	missense variant	pathogenic
rs182123874	2:191,073,623	T/A	—	uncertain significance
rs1054071302	2:191,073,627	A/G	—	uncertain significance
rs1364971527	2:191,073,639	T/A	—	pathogenic
rs1246020574	2:191,073,649	A/C	—	conflicting classifications of pathogenicity
rs760261914	2:191,073,655	G/C	—	likely benign
rs1690457105	2:191,073,658	T/A	—	likely benign
rs550386327	2:191,077,671	T/A	—	likely benign
rs765879254	2:191,077,689	G/A	—	uncertain significance
rs202197474	2:191,077,690	C/A	—	uncertain significance
rs2468637227	2:191,077,693	G/A	—	pathogenic
rs569593420	2:191,077,702	G/A	—	uncertain significance
rs751484433	2:191,077,719	A/C	—	uncertain significance
rs781319838	2:191,077,730	G/C	—	likely benign
rs1431663580	2:191,077,733	C/G	—	uncertain significance
rs750514913	2:191,077,735	T/C	—	uncertain significance
rs3213841	2:191,077,736	T/C	—	likely benign
rs780284663	2:191,077,742	C/A	—	likely benign
rs786204004	2:191,077,743	C/T	missense variant	pathogenic
rs769039339	2:191,077,748	C/T	—	uncertain significance
rs776217847	2:191,077,761	A/C	—	uncertain significance
rs759152882	2:191,077,768	T/A	—	uncertain significance
rs2105901918	2:191,077,776	G/A	—	uncertain significance
rs558397748	2:191,077,780	T/C	—	pathogenic
rs763947247	2:191,077,796	A/G	—	likely benign
rs1330753702	2:191,077,801	C/T	—	uncertain significance
rs113980003	2:191,077,819	T/G	—	likely benign
rs3815961	2:191,078,035	A/C	—	benign
rs7582209	2:191,109,448	G/A	—	benign
rs11883568	2:191,109,533	C/T	—	benign
rs1553499717	2:191,109,594	G/A	—	likely benign
rs959638999	2:191,109,595	A/G	—	likely benign
rs1686559411	2:191,109,597	A/G	—	likely benign
rs915412371	2:191,109,612	C/T	—	likely pathogenic
rs778683855	2:191,109,619	T/C	—	likely benign
rs1057523698	2:191,109,622	C/T	—	likely benign
rs750337514	2:191,109,641	C/G	—	uncertain significance
rs1252871654	2:191,109,644	T/C	—	likely pathogenic
rs1686562488	2:191,109,669	C/A	—	pathogenic
rs778325186	2:191,109,672	C/T	—	uncertain significance
rs1686562765	2:191,109,673	C/T	—	likely benign
rs1553499757	2:191,109,674	A/T	—	conflicting classifications of pathogenicity
rs757899313	2:191,109,692	C/G	—	uncertain significance
rs573302664	2:191,109,698	T/C	—	conflicting classifications of pathogenicity
rs2303827	2:191,109,870	C/A	—	benign
rs75531497	2:191,110,789	A/G	—	likely benign
rs1249772787	2:191,110,861	G/A	—	likely benign
rs143746450	2:191,110,879	C/T	splice region variant	pathogenic
rs188607586	2:191,110,881	T/C	—	uncertain significance
rs2105934821	2:191,110,891	G/A	—	likely benign
rs144053672	2:191,110,893	C/T	—	conflicting classifications of pathogenicity
rs201049927	2:191,110,895	A/G	—	uncertain significance
rs1280144449	2:191,110,899	G/A	—	uncertain significance
rs2105934861	2:191,110,906	A/C	—	likely benign
rs759563092	2:191,110,912	A/T	—	likely pathogenic
rs1248460683	2:191,110,926	G/A	—	pathogenic
rs369841488	2:191,110,942	T/C	—	uncertain significance
rs148810622	2:191,110,979	T/C	—	likely benign
rs17736581	2:191,111,045	A/G	—	benign
rs2562796	2:191,113,009	T/G	intron variant	—
rs2244076	2:191,114,229	T/C	—	benign
rs2244075	2:191,114,235	G/A	—	benign
rs7594755	2:191,114,332	T/C	—	benign
rs1006248346	2:191,114,366	C/T	—	uncertain significance
rs1686707452	2:191,114,372	A/T	—	uncertain significance
rs761024923	2:191,114,373	T/C	—	uncertain significance
rs61752508	2:191,114,381	T/G	—	benign
rs1370453272	2:191,114,400	T/C	—	uncertain significance
rs777307274	2:191,114,404	C/T	—	uncertain significance
rs756964939	2:191,114,424	G/A	—	uncertain significance
rs761431597	2:191,114,454	T/C	—	likely pathogenic
rs768823511	2:191,114,470	A/G	—	likely benign
rs75352449	2:191,116,869	C/A	—	benign
rs2468735243	2:191,116,874	A/C	—	likely benign
rs370615209	2:191,116,875	T/C	—	likely benign
rs2468735311	2:191,116,907	T/C	—	uncertain significance
rs773810589	2:191,116,916	A/G	—	uncertain significance
rs1210193670	2:191,116,919	C/T	—	uncertain significance
rs2468735407	2:191,116,935	C/T	—	uncertain significance
rs755786597	2:191,116,956	C/A	—	pathogenic

Showing 100 of 191 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.