CPOX

coproporphyrinogen oxidase

Summary

The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]

Known Variants241 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886058940	3:98,298,353	C/T	—	uncertain significance
rs886058941	3:98,298,374	C/G	—	uncertain significance
rs73133922	3:98,298,422	T/C	—	benign
rs775384142	3:98,298,451	C/T	—	uncertain significance
rs148251059	3:98,298,455	G/A	—	benign
rs763864217	3:98,298,481	T/C	—	uncertain significance
rs539237301	3:98,298,588	T/C	—	uncertain significance
rs7103	3:98,298,600	C/T	—	benign
rs1707219701	3:98,298,782	T/C	—	uncertain significance
rs893225316	3:98,298,815	A/G	—	uncertain significance
rs72924722	3:98,298,848	T/C	—	benign
rs886058942	3:98,298,894	T/G	—	uncertain significance
rs183311654	3:98,298,932	G/T	—	benign
rs1402867317	3:98,299,011	T/G	—	uncertain significance
rs886058943	3:98,299,021	G/A	—	uncertain significance
rs72924726	3:98,299,052	A/T	—	benign
rs141236816	3:98,299,146	G/A	—	benign
rs1354893013	3:98,299,176	T/C	—	uncertain significance
rs886058945	3:98,299,187	T/C	—	uncertain significance
rs72924727	3:98,299,198	C/G	—	benign
rs146214523	3:98,299,300	C/T	—	benign
rs139248891	3:98,299,332	A/G	—	benign
rs886058946	3:98,299,333	C/A	—	uncertain significance
rs1707237180	3:98,299,344	T/C	—	uncertain significance
rs1051712	3:98,299,365	G/T	—	benign
rs142440038	3:98,299,391	C/G	—	benign
rs2229123	3:98,299,432	C/T	—	benign
rs139447447	3:98,299,454	A/G	—	benign
rs886058947	3:98,299,461	C/T	—	uncertain significance
rs771996976	3:98,299,547	G/A	—	uncertain significance
rs200810233	3:98,299,552	C/T	—	uncertain significance
rs28931603	3:98,299,553	G/A	missense variant	pathogenic
rs952952191	3:98,299,556	G/T	—	uncertain significance
rs1318015563	3:98,299,558	A/T	—	uncertain significance
rs769371567	3:98,299,580	T/C	—	uncertain significance
rs143456081	3:98,299,600	T/C	—	conflicting classifications of pathogenicity
rs1304794253	3:98,299,620	C/A	—	likely benign
rs368739316	3:98,300,235	T/C	—	likely benign
rs199963669	3:98,300,242	T/C	—	uncertain significance
rs370245685	3:98,300,248	T/C	—	uncertain significance
rs2107113851	3:98,300,250	C/T	—	uncertain significance
rs2107113853	3:98,300,251	C/T	—	pathogenic
rs563304155	3:98,300,262	A/T	—	likely benign
rs2107113916	3:98,300,275	A/G	—	uncertain significance
rs1707257247	3:98,300,298	T/C	—	uncertain significance
rs121917868	3:98,300,318	T/C	missense variant	pathogenic
rs901308313	3:98,300,332	T/C	—	uncertain significance
rs145903251	3:98,300,352	A/G	—	likely benign
rs374136925	3:98,300,355	C/A	—	uncertain significance
rs368031409	3:98,300,371	C/A	—	likely benign
rs60105848	3:98,304,072	C/T	—	benign
rs754641690	3:98,304,265	T/C	—	likely benign
rs140055617	3:98,304,268	G/A	—	benign
rs16839985	3:98,304,271	T/C	—	benign
rs778215224	3:98,304,278	C/T	—	likely benign
rs747381138	3:98,304,280	C/A	—	uncertain significance
rs771228535	3:98,304,285	C/T	—	uncertain significance
rs375923779	3:98,304,286	G/A	—	conflicting classifications of pathogenicity
rs533745033	3:98,304,308	C/T	—	likely benign
rs201231166	3:98,304,319	G/C	—	conflicting classifications of pathogenicity
rs753677264	3:98,304,323	G/A	—	likely benign
rs2107120148	3:98,304,324	G/A	—	uncertain significance
rs778583962	3:98,304,349	T/C	—	benign
rs1707345051	3:98,304,380	C/G	—	uncertain significance
rs781577964	3:98,304,387	C/T	—	uncertain significance
rs2107120273	3:98,304,394	G/A	—	pathogenic
rs11921054	3:98,304,403	G/A	—	benign
rs201071538	3:98,304,429	T/A	—	likely benign
rs751038412	3:98,304,448	T/C	—	uncertain significance
rs1576300623	3:98,304,455	A/G	—	likely benign
rs781627991	3:98,304,462	C/T	—	conflicting classifications of pathogenicity
rs121917866	3:98,304,466	G/A	missense variant	pathogenic
rs1729995	3:98,304,467	T/C	—	benign
rs121917873	3:98,304,475	G/A	missense variant	pathogenic
rs587777271	3:98,304,477	T/C	missense variant	pathogenic
rs2472105976	3:98,304,484	T/C	—	uncertain significance
rs200327383	3:98,304,518	G/A	—	likely benign
rs551789535	3:98,304,520	C/T	—	likely benign
rs11918479	3:98,304,725	T/C	—	benign
rs76793447	3:98,304,785	T/C	—	benign
rs75448252	3:98,304,787	A/G	—	benign
rs78478767	3:98,304,788	A/C	—	benign
rs2107126016	3:98,307,555	A/G	—	pathogenic
rs2472111058	3:98,307,564	T/A	—	likely pathogenic
rs1707413681	3:98,307,572	G/C	—	uncertain significance
rs2107126046	3:98,307,573	G/T	—	uncertain significance
rs1707414546	3:98,307,587	C/T	—	uncertain significance
rs2107126101	3:98,307,590	T/C	—	uncertain significance
rs1218065487	3:98,307,606	C/G	—	uncertain significance
rs121917870	3:98,307,627	G/C	missense variant	pathogenic
rs2228056	3:98,307,630	C/T	—	benign
rs140475004	3:98,307,632	G/A	—	conflicting classifications of pathogenicity
rs762827865	3:98,307,633	C/T	—	uncertain significance
rs372927967	3:98,307,634	G/A	—	likely benign
rs2472111423	3:98,307,639	C/A	—	pathogenic
rs936496857	3:98,307,644	T/C	—	uncertain significance
rs761326041	3:98,307,655	T/G	—	likely benign
rs1399665273	3:98,307,673	A/G	—	likely benign
rs121917874	3:98,307,675	C/G	missense variant	pathogenic
rs1131691289	3:98,307,678	C/T	—	uncertain significance

Showing 100 of 241 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.