HADHA

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

Summary

This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]

Known Variants766 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs749568626	2:26,413,533	C/T	—	uncertain significance
rs115151034	2:26,413,558	G/A	—	benign
rs13432453	2:26,413,609	T/A	—	benign
rs886055856	2:26,413,625	C/A	—	uncertain significance
rs886055857	2:26,413,630	C/T	—	uncertain significance
rs779402635	2:26,413,682	A/T	—	uncertain significance
rs886055859	2:26,413,714	G/A	—	uncertain significance
rs146210168	2:26,413,716	G/A	—	uncertain significance
rs886055860	2:26,413,730	G/C	—	uncertain significance
rs539549041	2:26,413,764	G/A	—	uncertain significance
rs189483687	2:26,413,788	A/G	—	benign
rs1049987	2:26,413,817	C/T	—	benign
rs1001518961	2:26,413,880	G/A	—	uncertain significance
rs7260	2:26,413,917	C/T	—	benign
rs1013194171	2:26,413,937	G/A	—	uncertain significance
rs952439873	2:26,414,009	C/T	—	uncertain significance
rs1360388686	2:26,414,016	T/A	—	uncertain significance
rs1669485295	2:26,414,060	G/A	—	uncertain significance
rs367911534	2:26,414,073	C/T	—	uncertain significance
rs2465504506	2:26,414,120	C/T	—	likely benign
rs779065171	2:26,414,122	C/T	—	likely benign
rs2147748660	2:26,414,125	G/A	—	likely benign
rs1470549989	2:26,414,128	G/A	—	likely benign
rs1463426110	2:26,414,143	G/A	—	likely benign
rs2147748705	2:26,414,146	G/A	—	likely benign
rs1423314926	2:26,414,149	A/G	—	likely benign
rs1669489360	2:26,414,152	A/G	—	likely benign
rs768855989	2:26,414,170	G/T	—	uncertain significance
rs1442504665	2:26,414,176	G/A	—	likely benign
rs142120825	2:26,414,191	A/T	—	pathogenic
rs141164185	2:26,414,196	C/A	—	uncertain significance
rs770871669	2:26,414,202	C/G	—	uncertain significance
rs774114061	2:26,414,203	A/T	—	pathogenic
rs2147748806	2:26,414,209	C/T	—	likely benign
rs1322871046	2:26,414,211	T/A	—	pathogenic
rs2465504943	2:26,414,212	G/A	—	likely benign
rs2147748812	2:26,414,213	A/G	—	likely pathogenic
rs2465504958	2:26,414,215	C/T	—	likely benign
rs202050075	2:26,414,216	C/T	—	uncertain significance
rs767158795	2:26,414,217	G/A	—	uncertain significance
rs1348209738	2:26,414,218	G/T	—	uncertain significance
rs775428463	2:26,414,219	T/A	—	uncertain significance
rs143434901	2:26,414,225	A/G	—	uncertain significance
rs1669492430	2:26,414,226	T/C	—	uncertain significance
rs1169953238	2:26,414,233	G/A	—	likely benign
rs375399631	2:26,414,236	G/A	—	conflicting classifications of pathogenicity
rs2465505027	2:26,414,239	A/G	—	likely benign
rs1350429116	2:26,414,240	T/C	—	uncertain significance
rs1352996721	2:26,414,242	C/A	—	likely benign
rs766506078	2:26,414,244	G/A	—	likely benign
rs751955844	2:26,414,255	C/T	—	likely benign
rs1271662796	2:26,414,263	C/G	—	likely benign
rs2465505094	2:26,414,266	T/C	—	uncertain significance
rs2147748983	2:26,414,269	A/G	—	likely benign
rs368976628	2:26,414,272	G/C	—	conflicting classifications of pathogenicity
rs371667948	2:26,414,274	G/A	—	likely benign
rs1195994754	2:26,414,281	G/A	—	likely benign
rs367910392	2:26,414,283	C/G	—	likely benign
rs1292107834	2:26,414,332	T/G	—	likely benign
rs778281315	2:26,414,333	C/G	—	uncertain significance
rs200961004	2:26,414,334	C/T	—	likely benign
rs775606155	2:26,414,335	C/T	—	likely benign
rs145930159	2:26,414,336	A/G	—	likely benign
rs1669500795	2:26,414,340	T/C	—	likely benign
rs768516891	2:26,414,342	C/T	—	likely benign
rs776491880	2:26,414,343	G/A	—	likely benign
rs1057516350	2:26,414,350	A/G	—	pathogenic
rs794727219	2:26,414,351	C/T	—	pathogenic
rs186499456	2:26,414,365	C/T	—	likely benign
rs780054585	2:26,414,369	A/T	—	uncertain significance
rs2465505611	2:26,414,371	G/C	—	likely benign
rs374503588	2:26,414,377	C/G	—	likely benign
rs2465505635	2:26,414,382	A/C	—	uncertain significance
rs1240187200	2:26,414,384	A/T	—	conflicting classifications of pathogenicity
rs146406360	2:26,414,385	C/T	—	uncertain significance
rs754294789	2:26,414,386	G/A	—	likely benign
rs2465505702	2:26,414,389	T/C	—	likely benign
rs200438844	2:26,414,391	C/T	missense variant	pathogenic
rs267599302	2:26,414,392	G/A	—	likely benign
rs1553311698	2:26,414,396	T/C	—	uncertain significance
rs2465505744	2:26,414,398	T/C	—	likely benign
rs757938383	2:26,414,404	T/C	—	likely benign
rs2147749333	2:26,414,407	A/C	—	likely benign
rs2147749338	2:26,414,411	G/A	—	uncertain significance
rs2465505792	2:26,414,413	G/A	—	likely benign
rs587776501	2:26,414,415	C/T	—	not provided
rs1017968154	2:26,414,421	T/C	—	uncertain significance
rs2465505839	2:26,414,422	C/A	—	likely benign
rs2147749350	2:26,414,425	C/T	—	likely benign
rs1057517132	2:26,414,427	C/A	stop gained	pathogenic
rs1669504364	2:26,414,435	C/T	—	uncertain significance
rs149632783	2:26,414,438	A/G	—	benign
rs1231960929	2:26,414,461	T/C	—	conflicting classifications of pathogenicity
rs1204190984	2:26,414,471	C/T	—	pathogenic
rs771028541	2:26,414,472	G/A	—	pathogenic
rs1479427836	2:26,414,476	C/T	—	likely benign
rs2147749450	2:26,414,478	G/A	—	pathogenic
rs1669506700	2:26,414,479	G/A	—	likely benign
rs1669506916	2:26,414,482	G/A	—	likely benign
rs377688807	2:26,414,488	G/A	—	likely benign

Showing 100 of 766 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.