HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase

Summary

The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Known Variants389 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886046310	1:24,128,539	C/T	—	uncertain significance
rs145874467	1:24,128,565	C/T	—	uncertain significance
rs1470010250	1:24,128,587	C/T	—	uncertain significance
rs988536831	1:24,128,615	C/G	—	uncertain significance
rs886046311	1:24,128,663	A/G	—	uncertain significance
rs369514739	1:24,128,664	C/A	—	likely benign
rs192071003	1:24,128,759	G/C	—	likely benign
rs552915017	1:24,128,849	C/T	—	uncertain significance
rs1303767209	1:24,128,954	C/G	—	uncertain significance
rs1553131320	1:24,128,955	A/G	—	uncertain significance
rs2148415747	1:24,128,962	A/G	—	likely benign
rs1638300920	1:24,128,965	G/C	—	likely benign
rs2521366255	1:24,128,969	G/T	—	uncertain significance
rs752574198	1:24,128,971	C/T	—	likely benign
rs1553131326	1:24,128,973	G/A	—	uncertain significance
rs777758512	1:24,128,981	T/C	—	uncertain significance
rs1557484629	1:24,128,986	G/C	—	uncertain significance
rs2148415779	1:24,128,989	A/T	—	likely benign
rs1194563406	1:24,128,998	G/C	—	uncertain significance
rs1402984817	1:24,129,000	T/C	—	uncertain significance
rs777324642	1:24,129,010	A/G	—	likely benign
rs1557484669	1:24,129,011	C/T	—	uncertain significance
rs2148415804	1:24,129,013	G/A	—	likely benign
rs2148415809	1:24,129,016	A/G	—	likely benign
rs2521366785	1:24,129,022	T/C	—	likely benign
rs2148415814	1:24,129,032	A/G	—	uncertain significance
rs992734996	1:24,129,034	A/T	—	likely benign
rs761934596	1:24,129,037	C/T	—	likely benign
rs2521366937	1:24,129,043	G/A	—	likely benign
rs1370242689	1:24,129,049	C/T	—	likely benign
rs1348862182	1:24,129,053	C/G	—	uncertain significance
rs750545040	1:24,129,061	G/A	—	likely benign
rs1570640519	1:24,129,065	C/A	—	likely benign
rs763250288	1:24,129,070	T/C	—	likely benign
rs2521367193	1:24,129,071	A/G	—	likely benign
rs2076343	1:24,129,126	G/A	—	benign
rs558667817	1:24,129,373	A/G	—	likely benign
rs114249277	1:24,130,812	C/A	—	likely benign
rs749917434	1:24,130,870	C/T	—	likely benign
rs200098567	1:24,130,872	G/A	—	benign
rs1301375960	1:24,130,873	G/C	—	likely benign
rs1211196871	1:24,130,876	G/T	—	likely benign
rs1570642184	1:24,130,881	T/C	—	likely benign
rs2521380905	1:24,130,883	G/T	—	likely benign
rs779802353	1:24,130,889	C/G	—	pathogenic
rs753754467	1:24,130,890	C/A	—	uncertain significance
rs1638362250	1:24,130,891	G/A	—	uncertain significance
rs755329065	1:24,130,900	C/T	—	uncertain significance
rs1425615804	1:24,130,903	A/T	—	pathogenic
rs2521381121	1:24,130,904	A/G	—	likely benign
rs2521381152	1:24,130,906	C/T	—	uncertain significance
rs376715568	1:24,130,908	C/T	—	likely benign
rs2521381296	1:24,130,917	G/A	—	likely benign
rs2148416963	1:24,130,920	G/A	—	likely benign
rs773635833	1:24,130,923	C/T	—	likely benign
rs1638363122	1:24,130,925	G/C	—	uncertain significance
rs749367428	1:24,130,926	G/A	—	likely benign
rs121964998	1:24,130,931	C/T	missense variant	pathogenic
rs771024022	1:24,130,938	C/T	—	conflicting classifications of pathogenicity
rs2148416982	1:24,130,940	A/G	—	likely benign
rs1287973337	1:24,130,941	G/C	—	conflicting classifications of pathogenicity
rs774486153	1:24,130,942	T/C	—	uncertain significance
rs1391067821	1:24,130,946	C/T	—	uncertain significance
rs141340718	1:24,130,950	T/A	—	likely benign
rs1638363983	1:24,130,952	C/A	—	uncertain significance
rs550489427	1:24,130,955	C/T	—	uncertain significance
rs761552111	1:24,130,960	G/A	—	uncertain significance
rs368688262	1:24,130,961	C/T	—	uncertain significance
rs765198174	1:24,130,962	G/T	—	likely pathogenic
rs2521382051	1:24,130,965	G/A	—	likely benign
rs750347526	1:24,130,966	G/T	—	uncertain significance
rs1220289416	1:24,130,967	G/A	—	uncertain significance
rs757884073	1:24,130,970	A/G	—	likely pathogenic
rs1488079271	1:24,130,971	G/C	—	conflicting classifications of pathogenicity
rs2521382161	1:24,130,973	C/T	—	uncertain significance
rs1025294353	1:24,130,979	G/T	—	uncertain significance
rs568796561	1:24,130,992	A/G	—	likely benign
rs1300668281	1:24,130,995	G/A	—	likely benign
rs764238653	1:24,131,000	C/T	—	uncertain significance
rs778296169	1:24,131,001	G/C	—	likely benign
rs983682054	1:24,131,004	A/G	—	likely benign
rs774398630	1:24,131,006	T/C	—	uncertain significance
rs1570642400	1:24,131,007	C/T	—	likely benign
rs1356054021	1:24,131,018	A/G	—	uncertain significance
rs2521382641	1:24,131,019	G/A	—	likely benign
rs2148417068	1:24,131,022	A/G	—	likely benign
rs2521382695	1:24,131,023	C/T	—	likely benign
rs746009689	1:24,131,024	A/G	—	likely benign
rs772248147	1:24,131,025	T/C	—	likely benign
rs775623783	1:24,131,026	A/G	—	likely benign
rs2521382785	1:24,131,028	G/C	—	likely benign
rs2521382797	1:24,131,030	A/T	—	likely benign
rs1222176308	1:24,131,032	G/A	—	likely benign
rs139615030	1:24,134,384	G/A	—	likely benign
rs719399	1:24,134,462	C/T	—	benign
rs144335301	1:24,134,474	C/T	—	likely benign
rs370304889	1:24,134,606	G/A	—	likely benign
rs1048814450	1:24,134,607	G/A	—	likely benign
rs778868742	1:24,134,611	A/T	—	conflicting classifications of pathogenicity
rs771868826	1:24,134,617	T/C	—	likely benign

Showing 100 of 389 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.