HEPHL1

hephaestin like 1

Summary

Enables ferroxidase activity. Involved in intracellular iron ion homeostasis. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants106 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs570654985	11:93,754,541	C/T	—	uncertain significance
rs187938867	11:93,754,578	T/C	—	uncertain significance
rs372650215	11:93,754,634	G/T	—	uncertain significance
rs368010496	11:93,754,658	C/T	—	uncertain significance
rs373750549	11:93,778,872	C/G	—	uncertain significance
rs757198049	11:93,778,883	G/A	—	uncertain significance
rs1398028351	11:93,778,887	T/G	—	uncertain significance
rs779806912	11:93,778,896	G/T	—	uncertain significance
rs143861250	11:93,778,909	C/T	—	likely benign
rs199720861	11:93,778,925	C/T	—	uncertain significance
rs2496186281	11:93,778,953	C/G	—	likely benign
rs757323955	11:93,778,955	G/C	—	uncertain significance
rs200703100	11:93,779,032	C/T	—	likely pathogenic
rs200060606	11:93,779,059	G/A	—	uncertain significance
rs1333818685	11:93,796,701	G/C	—	uncertain significance
rs1355550916	11:93,796,776	C/A	—	uncertain significance
rs114542505	11:93,796,782	C/T	—	likely benign
rs202005678	11:93,796,831	C/T	—	likely benign
rs73551201	11:93,797,539	G/A	—	benign
rs146491431	11:93,797,581	G/C	—	uncertain significance
rs2496212093	11:93,797,583	T/C	—	uncertain significance
rs1945783	11:93,797,619	A/G	—	benign
rs1945784	11:93,797,935	G/A	intron variant	—
rs959187642	11:93,800,704	T/C	—	uncertain significance
rs764079346	11:93,800,705	G/A	—	uncertain significance
rs1053915084	11:93,800,844	C/T	—	uncertain significance
rs373413432	11:93,800,850	A/G	—	uncertain significance
rs375642305	11:93,800,865	G/A	—	uncertain significance
rs774463623	11:93,800,916	G/A	—	no classifications from unflagged records
rs147568254	11:93,803,598	G/C	—	benign
rs780507774	11:93,803,616	G/T	—	uncertain significance
rs200398960	11:93,803,618	G/A	—	likely benign
rs773360144	11:93,803,644	C/A	—	uncertain significance
rs1231160207	11:93,803,695	A/C	—	uncertain significance
rs557012995	11:93,803,697	C/A	—	uncertain significance
rs751122640	11:93,803,698	G/A	—	uncertain significance
rs1878799	11:93,803,717	C/G	—	benign
rs757518199	11:93,806,215	A/C	—	uncertain significance
rs2496224207	11:93,806,229	T/C	—	uncertain significance
rs1946090084	11:93,806,241	A/G	—	uncertain significance
rs78786722	11:93,806,253	G/A	—	benign
rs369312940	11:93,806,261	G/C	—	uncertain significance
rs2496224277	11:93,806,262	A/G	—	uncertain significance
rs769195557	11:93,806,315	C/T	—	uncertain significance
rs772844212	11:93,806,497	G/A	—	uncertain significance
rs907028130	11:93,806,585	A/T	—	uncertain significance
rs568612189	11:93,806,599	C/G	—	likely benign
rs370766256	11:93,808,375	G/A	—	uncertain significance
rs375239799	11:93,808,384	A/G	—	uncertain significance
rs748694729	11:93,808,411	G/A	—	uncertain significance
rs2134439472	11:93,815,675	G/A	—	uncertain significance
rs2496239276	11:93,815,680	C/T	—	uncertain significance
rs764831658	11:93,815,720	C/T	—	uncertain significance
rs1946215191	11:93,819,243	G/A	—	uncertain significance
rs761222013	11:93,819,251	T/C	—	uncertain significance
rs781262950	11:93,819,298	T/C	—	uncertain significance
rs371133631	11:93,819,318	C/T	—	likely benign
rs1253985527	11:93,819,319	A/G	—	likely benign
rs200886564	11:93,821,949	G/T	—	likely benign
rs764497377	11:93,821,954	A/G	—	uncertain significance
rs750498868	11:93,821,980	T/C	—	uncertain significance
rs759620909	11:93,822,046	T/C	—	uncertain significance
rs1320843748	11:93,822,050	T/A	—	uncertain significance
rs767751041	11:93,822,065	T/C	—	uncertain significance
rs116956001	11:93,822,102	T/C	—	uncertain significance
rs774900315	11:93,822,121	G/T	—	uncertain significance
rs200632347	11:93,826,689	C/T	—	uncertain significance
rs763971719	11:93,826,693	C/T	—	uncertain significance
rs751290635	11:93,826,699	A/G	—	uncertain significance
rs370954018	11:93,826,729	T/C	—	uncertain significance
rs1565360317	11:93,826,783	G/T	—	uncertain significance
rs746114018	11:93,826,799	A/T	—	uncertain significance
rs142611571	11:93,834,393	G/A	—	likely benign
rs761208228	11:93,834,490	T/A	—	uncertain significance
rs4408267	11:93,835,395	G/C	intron variant	—
rs184702288	11:93,836,111	T/C	—	likely benign
rs1316391530	11:93,836,142	A/G	—	uncertain significance
rs148114445	11:93,837,771	C/A	—	benign
rs967329203	11:93,837,827	A/G	—	uncertain significance
rs542337286	11:93,837,868	C/T	—	likely pathogenic
rs990835505	11:93,837,900	A/T	—	uncertain significance
rs200078708	11:93,839,219	A/C	—	uncertain significance
rs1297803056	11:93,839,244	G/A	—	uncertain significance
rs760113459	11:93,839,294	A/G	—	uncertain significance
rs16919942	11:93,840,415	C/T	intron variant	—
rs7925817	11:93,844,034	T/G	—	benign
rs762786968	11:93,844,073	A/G	—	uncertain significance
rs372726802	11:93,844,084	C/G	—	uncertain significance
rs201995404	11:93,844,108	C/T	—	uncertain significance
rs199856193	11:93,844,199	T/C	—	uncertain significance
rs2496277687	11:93,844,208	C/G	—	uncertain significance
rs562897907	11:93,844,215	G/A	—	likely benign
rs545807289	11:93,844,706	A/G	—	uncertain significance
rs202213689	11:93,844,720	T/C	—	uncertain significance
rs76467816	11:93,844,722	C/T	—	benign
rs1591492505	11:93,844,748	A/G	—	uncertain significance
rs1225760205	11:93,844,763	C/T	—	uncertain significance
rs184946138	11:93,844,764	A/G	—	likely benign
rs546075822	11:93,844,860	C/T	—	uncertain significance
rs2496279166	11:93,844,941	A/G	—	uncertain significance

Showing 100 of 106 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.