FECH

ferrochelatase

Summary

The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]

Known Variants284 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs139119026	18:55,212,143	A/C	—	likely benign
rs13732	18:55,212,316	G/T	—	benign
rs78224804	18:55,212,356	C/T	—	benign
rs145935279	18:55,212,550	C/A	—	likely benign
rs189146107	18:55,212,595	G/A	—	uncertain significance
rs375220859	18:55,212,697	A/G	—	uncertain significance
rs886053966	18:55,212,774	A/G	—	uncertain significance
rs139987131	18:55,212,801	G/A	—	likely benign
rs55987829	18:55,212,804	C/T	—	likely benign
rs151197779	18:55,212,805	G/A	—	likely benign
rs776370345	18:55,212,854	C/T	—	uncertain significance
rs114530851	18:55,212,973	T/C	—	benign
rs7238897	18:55,213,058	A/C	—	benign
rs565989254	18:55,213,115	G/A	—	likely benign
rs760022638	18:55,213,224	A/G	—	uncertain significance
rs886053967	18:55,213,346	A/C	—	uncertain significance
rs147684323	18:55,213,347	A/G	—	likely benign
rs663774	18:55,213,381	A/C	—	benign
rs564734119	18:55,213,416	G/A	—	uncertain significance
rs7228449	18:55,213,481	T/C	—	benign
rs113000324	18:55,213,486	G/A	—	likely benign
rs886053968	18:55,213,495	T/C	—	uncertain significance
rs578202706	18:55,213,499	C/T	—	likely benign
rs543603003	18:55,213,576	C/T	—	likely benign
rs146417207	18:55,213,577	G/A	—	likely benign
rs375097125	18:55,213,581	C/T	—	uncertain significance
rs747976113	18:55,213,607	C/T	—	uncertain significance
rs769571284	18:55,213,608	T/C	—	uncertain significance
rs886053969	18:55,213,707	T/C	—	uncertain significance
rs72940306	18:55,213,838	C/T	—	benign
rs548648988	18:55,213,867	G/A	—	uncertain significance
rs181920623	18:55,213,888	G/A	—	likely benign
rs886053970	18:55,213,968	G/A	—	uncertain significance
rs143797631	18:55,214,103	G/A	—	likely benign
rs190604320	18:55,214,140	C/T	—	likely benign
rs886053971	18:55,214,156	T/C	—	uncertain significance
rs886053973	18:55,214,225	G/A	—	uncertain significance
rs567960865	18:55,214,228	G/A	—	likely benign
rs148141502	18:55,214,253	G/A	—	likely benign
rs886053974	18:55,214,288	G/A	—	uncertain significance
rs73453635	18:55,214,343	T/C	—	benign
rs556538397	18:55,214,377	C/T	—	likely benign
rs480942	18:55,214,567	C/A	—	benign
rs113928110	18:55,214,605	C/T	—	likely benign
rs75976774	18:55,214,774	A/G	—	likely benign
rs137955859	18:55,214,815	G/A	—	likely benign
rs568628377	18:55,215,104	G/A	—	likely benign
rs8090261	18:55,215,119	T/C	—	benign
rs145954113	18:55,215,156	C/T	—	likely benign
rs886053975	18:55,215,162	C/A	—	uncertain significance
rs111695226	18:55,215,205	A/G	—	benign
rs558443758	18:55,215,300	T/C	—	likely benign
rs886053976	18:55,215,344	C/T	—	uncertain significance
rs886053977	18:55,215,345	G/A	—	uncertain significance
rs2723680	18:55,215,418	A/G	—	benign
rs886053978	18:55,215,431	C/T	—	uncertain significance
rs55769459	18:55,215,493	A/C	—	benign
rs4940895	18:55,215,498	C/A	—	uncertain significance
rs201834035	18:55,215,501	A/C	—	likely benign
rs886053982	18:55,215,503	C/A	—	uncertain significance
rs1062010	18:55,215,573	A/C	—	benign
rs886053983	18:55,215,865	G/A	—	uncertain significance
rs886053984	18:55,215,884	G/A	—	uncertain significance
rs779669357	18:55,215,978	C/A	—	uncertain significance
rs886053985	18:55,215,994	T/C	—	uncertain significance
rs148459563	18:55,216,029	C/A	—	likely benign
rs78359676	18:55,216,322	A/G	—	benign
rs574153215	18:55,216,377	T/C	—	likely benign
rs540286571	18:55,216,436	C/T	—	likely benign
rs112062178	18:55,216,465	A/G	—	likely benign
rs886053986	18:55,216,491	A/G	—	uncertain significance
rs886053987	18:55,216,596	A/C	—	uncertain significance
rs113654252	18:55,216,657	A/T	—	uncertain significance
rs886053989	18:55,216,768	C/T	—	uncertain significance
rs886053990	18:55,216,769	C/T	—	uncertain significance
rs868017208	18:55,216,771	T/A	—	uncertain significance
rs886053991	18:55,216,774	A/T	—	uncertain significance
rs886053992	18:55,216,873	G/C	—	uncertain significance
rs192343321	18:55,216,890	A/G	—	likely benign
rs185134664	18:55,216,905	C/T	—	likely benign
rs140863287	18:55,216,912	C/T	—	likely benign
rs144709743	18:55,217,008	G/A	—	likely benign
rs13271	18:55,217,052	A/G	—	likely benign
rs886053993	18:55,217,119	A/G	—	uncertain significance
rs76175837	18:55,217,248	G/A	—	benign
rs577112809	18:55,217,352	G/A	—	likely benign
rs114617188	18:55,217,373	C/T	—	likely benign
rs3760613	18:55,217,463	T/C	—	benign
rs886053994	18:55,217,501	T/G	—	uncertain significance
rs3760612	18:55,217,522	A/T	—	benign
rs781751487	18:55,217,550	G/C	—	uncertain significance
rs113392534	18:55,217,597	C/T	—	likely benign
rs8339	18:55,217,696	G/A	—	benign
rs886053995	18:55,217,808	C/G	—	uncertain significance
rs8099115	18:55,217,827	G/A	—	benign
rs886053996	18:55,217,884	A/G	—	uncertain significance
rs886053997	18:55,217,889	G/A	—	uncertain significance
rs2511510972	18:55,217,952	G/A	—	uncertain significance
rs767086949	18:55,217,963	A/C	—	uncertain significance
rs118204039	18:55,217,966	A/G	missense variant	pathogenic

Showing 100 of 284 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.