EGLN1

egl-9 family hypoxia inducible factor 1

Summary

The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]

Known Variants784 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs77496832	1:231,499,559	C/T	—	benign
rs886046095	1:231,499,580	C/G	—	uncertain significance
rs1333130258	1:231,499,666	G/A	—	uncertain significance
rs191867	1:231,499,922	G/C	—	benign
rs141735901	1:231,500,061	A/G	—	benign
rs116262857	1:231,500,096	G/C	—	benign
rs886046096	1:231,500,113	C/T	—	uncertain significance
rs193073371	1:231,500,114	G/A	—	likely benign
rs1687584190	1:231,500,134	T/C	—	uncertain significance
rs185322052	1:231,500,192	T/C	—	uncertain significance
rs41303095	1:231,500,238	G/A	—	benign
rs886046097	1:231,500,246	G/A	—	uncertain significance
rs13239	1:231,500,277	T/A	—	benign
rs774937283	1:231,500,303	A/C	—	uncertain significance
rs1687590538	1:231,500,332	C/T	—	uncertain significance
rs143135847	1:231,500,370	A/C	—	likely benign
rs759117979	1:231,500,426	G/A	—	uncertain significance
rs574739784	1:231,500,670	G/A	—	uncertain significance
rs1315144793	1:231,500,831	A/G	—	uncertain significance
rs578226800	1:231,500,869	G/A	—	benign
rs185930120	1:231,500,958	T/C	—	benign
rs775022659	1:231,500,972	A/G	—	uncertain significance
rs763620691	1:231,501,069	G/A	—	uncertain significance
rs886046100	1:231,501,147	G/A	—	uncertain significance
rs7550833	1:231,501,168	A/G	—	benign
rs867975663	1:231,501,185	C/T	—	uncertain significance
rs773908732	1:231,501,192	T/C	—	uncertain significance
rs886046101	1:231,501,213	G/A	—	uncertain significance
rs1687618996	1:231,501,223	A/C	—	uncertain significance
rs1042628099	1:231,501,316	G/A	—	uncertain significance
rs886046102	1:231,501,359	G/A	—	uncertain significance
rs886046103	1:231,501,361	G/T	—	uncertain significance
rs375652885	1:231,501,494	G/A	—	uncertain significance
rs1489752896	1:231,501,507	T/A	—	uncertain significance
rs183632912	1:231,501,535	T/C	—	benign
rs886046104	1:231,501,554	G/T	—	uncertain significance
rs373743992	1:231,501,582	T/A	—	benign
rs886046106	1:231,501,622	A/C	—	uncertain significance
rs144067360	1:231,501,663	C/T	—	likely benign
rs186972462	1:231,501,705	T/C	—	benign
rs974916553	1:231,501,723	A/C	—	uncertain significance
rs886046107	1:231,501,736	T/C	—	uncertain significance
rs192117490	1:231,501,770	C/T	—	likely benign
rs923016967	1:231,501,786	T/G	—	uncertain significance
rs1204924164	1:231,502,065	C/G	—	uncertain significance
rs571961024	1:231,502,089	C/T	—	uncertain significance
rs199612416	1:231,502,136	G/C	—	likely benign
rs767020788	1:231,502,159	A/G	—	uncertain significance
rs1253206631	1:231,502,160	G/A	—	likely benign
rs1472408827	1:231,502,165	C/T	—	uncertain significance
rs61734647	1:231,502,166	G/A	—	benign
rs2527215536	1:231,502,168	C/T	—	uncertain significance
rs763596301	1:231,502,173	C/A	—	conflicting classifications of pathogenicity
rs753505082	1:231,502,174	C/T	—	conflicting classifications of pathogenicity
rs756924512	1:231,502,175	G/A	—	likely benign
rs2527215574	1:231,502,176	A/G	—	uncertain significance
rs149179666	1:231,502,178	C/T	—	likely benign
rs147839743	1:231,502,179	G/A	—	conflicting classifications of pathogenicity
rs1348057473	1:231,502,181	A/T	—	conflicting classifications of pathogenicity
rs2527215594	1:231,502,184	T/C	—	likely benign
rs779990034	1:231,502,185	G/A	—	uncertain significance
rs2527215603	1:231,502,186	A/T	—	uncertain significance
rs1293477221	1:231,502,188	G/A	—	uncertain significance
rs1371537700	1:231,502,189	G/A	—	uncertain significance
rs748926816	1:231,502,194	T/C	—	conflicting classifications of pathogenicity
rs2527215625	1:231,502,195	T/C	—	uncertain significance
rs768683806	1:231,502,198	G/A	—	uncertain significance
rs2527215651	1:231,502,201	C/T	—	uncertain significance
rs768347513	1:231,502,204	C/T	—	uncertain significance
rs2527215673	1:231,502,208	C/G	—	likely benign
rs137949094	1:231,502,210	C/T	—	uncertain significance
rs770109705	1:231,502,211	A/G	—	likely benign
rs2527215696	1:231,502,212	C/T	—	uncertain significance
rs2527215704	1:231,502,217	T/C	—	likely benign
rs763430226	1:231,502,228	G/A	—	likely benign
rs111836138	1:231,502,244	A/T	—	benign
rs1435167	1:231,502,245	T/A	—	benign
rs1435166	1:231,502,310	T/C	—	benign
rs2527218893	1:231,503,295	T/C	—	likely benign
rs1382596886	1:231,503,297	G/A	—	likely benign
rs1482429599	1:231,503,299	C/T	—	likely benign
rs541795999	1:231,503,308	C/T	—	benign
rs376628693	1:231,503,309	G/A	—	uncertain significance
rs2527218973	1:231,503,315	C/T	—	uncertain significance
rs778151367	1:231,503,322	A/G	—	likely benign
rs2527218999	1:231,503,323	T/C	—	uncertain significance
rs2527219010	1:231,503,325	T/C	—	likely benign
rs1388172183	1:231,503,328	T/C	—	likely benign
rs149479360	1:231,503,329	A/C	—	uncertain significance
rs771491532	1:231,503,330	C/T	—	uncertain significance
rs774766704	1:231,503,337	T/G	—	likely benign
rs760013506	1:231,503,338	C/T	—	uncertain significance
rs1301849220	1:231,503,339	G/A	—	conflicting classifications of pathogenicity
rs772604485	1:231,503,340	T/C	—	likely benign
rs2527219099	1:231,503,345	T/G	—	likely benign
rs1572014723	1:231,503,349	A/T	—	uncertain significance
rs1449135309	1:231,503,352	T/C	—	likely benign
rs2527219145	1:231,503,357	C/T	—	uncertain significance
rs2527219157	1:231,503,370	A/C	—	likely benign
rs775821997	1:231,503,375	T/C	—	uncertain significance

Showing 100 of 784 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.