EIF2B4

eukaryotic translation initiation factor 2B subunit delta

Summary

Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants367 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs367568951	2:27,587,228	G/A	—	uncertain significance
rs41288827	2:27,587,266	G/A	—	benign
rs2465485225	2:27,587,270	C/T	—	likely benign
rs866717709	2:27,587,272	G/A	—	uncertain significance
rs2465485271	2:27,587,273	G/A	—	likely benign
rs2465485280	2:27,587,275	C/T	—	uncertain significance
rs753088593	2:27,587,288	T/G	—	likely benign
rs2465485504	2:27,587,303	T/C	—	likely benign
rs753589996	2:27,587,306	A/G	—	likely benign
rs2465485640	2:27,587,329	G/A	—	likely benign
rs146687759	2:27,587,333	C/T	—	likely benign
rs749942048	2:27,587,334	G/A	—	likely pathogenic
rs2465485797	2:27,587,348	C/T	—	likely benign
rs1681690750	2:27,587,351	A/G	—	uncertain significance
rs1439905855	2:27,587,359	G/A	—	uncertain significance
rs1285304842	2:27,587,363	A/C	—	likely benign
rs376099446	2:27,587,369	A/G	—	likely benign
rs113994040	2:27,587,374	A/G	missense variant	pathogenic
rs1390030753	2:27,587,377	C/T	—	uncertain significance
rs1058075	2:27,587,380	G/A	—	likely benign
rs776097463	2:27,587,391	C/T	—	uncertain significance
rs113994039	2:27,587,392	G/A	missense variant	pathogenic
rs2465486434	2:27,587,399	T/C	—	likely benign
rs145784671	2:27,587,401	C/T	—	uncertain significance
rs1681697597	2:27,587,402	G/A	—	likely benign
rs2465486662	2:27,587,417	A/G	—	likely benign
rs764983689	2:27,587,423	C/T	—	likely benign
rs1457766329	2:27,587,424	G/T	—	uncertain significance
rs749983780	2:27,587,427	A/T	—	uncertain significance
rs757943510	2:27,587,428	C/A	—	uncertain significance
rs751555693	2:27,587,439	C/T	—	conflicting classifications of pathogenicity
rs138249238	2:27,587,440	G/A	—	conflicting classifications of pathogenicity
rs1173537017	2:27,587,441	C/T	—	likely benign
rs113994038	2:27,587,446	A/G	missense variant	pathogenic
rs148810263	2:27,587,447	T/C	—	likely benign
rs2465487124	2:27,587,450	C/T	—	likely benign
rs141403112	2:27,587,456	A/G	—	conflicting classifications of pathogenicity
rs2465487304	2:27,587,465	A/G	—	likely benign
rs886055899	2:27,587,470	C/T	—	uncertain significance
rs1681703499	2:27,587,473	T/A	—	likely benign
rs779220723	2:27,587,480	C/A	—	likely benign
rs187815059	2:27,587,481	G/A	—	likely benign
rs1339666687	2:27,587,484	C/T	—	likely benign
rs372323014	2:27,587,485	C/T	—	likely benign
rs2465488492	2:27,587,566	T/C	—	likely benign
rs78914478	2:27,587,572	T/G	—	benign
rs369139744	2:27,587,573	T/C	—	likely benign
rs752584305	2:27,587,575	G/C	—	likely benign
rs1032502330	2:27,587,576	C/T	—	likely benign
rs2148368349	2:27,587,611	G/A	—	uncertain significance
rs746154598	2:27,587,618	C/T	—	uncertain significance
rs767391188	2:27,587,620	C/T	—	conflicting classifications of pathogenicity
rs1433783398	2:27,587,635	T/C	—	conflicting classifications of pathogenicity
rs777297913	2:27,587,646	G/A	—	likely benign
rs886055900	2:27,587,647	C/A	—	uncertain significance
rs1681720216	2:27,587,652	C/T	—	likely benign
rs868522898	2:27,587,654	G/A	—	likely benign
rs1282470878	2:27,587,655	C/A	—	likely benign
rs1681721084	2:27,587,659	G/A	—	uncertain significance
rs770318466	2:27,587,664	A/G	—	likely benign
rs2465489245	2:27,587,666	T/C	—	uncertain significance
rs747532557	2:27,587,682	C/T	—	likely benign
rs1219836661	2:27,587,700	C/T	—	likely benign
rs759071387	2:27,587,708	G/A	—	uncertain significance
rs2465489555	2:27,587,709	T/C	—	likely benign
rs1681726360	2:27,587,721	C/T	—	likely benign
rs1058065	2:27,587,724	G/A	synonymous variant	benign
rs756024921	2:27,587,727	G/A	—	likely benign
rs1454377141	2:27,587,736	T/C	—	likely benign
rs753573267	2:27,587,739	A/G	—	likely benign
rs1328731430	2:27,587,750	A/G	—	likely benign
rs1422967742	2:27,587,751	T/C	—	likely benign
rs757012537	2:27,587,753	G/A	—	likely benign
rs780149885	2:27,587,756	C/T	—	uncertain significance
rs2465490023	2:27,587,770	T/G	—	likely benign
rs1380546493	2:27,587,774	C/T	—	likely benign
rs2465490197	2:27,587,777	G/A	—	likely benign
rs1681730753	2:27,587,779	G/A	—	likely benign
rs534043363	2:27,587,781	A/G	—	likely benign
rs770188347	2:27,587,784	G/A	—	likely benign
rs373193504	2:27,587,785	G/T	—	likely benign
rs760676299	2:27,589,606	T/G	—	likely benign
rs555801578	2:27,589,609	T/A	—	likely benign
rs140046653	2:27,589,613	C/T	—	conflicting classifications of pathogenicity
rs751867352	2:27,589,624	A/G	—	likely pathogenic
rs113994037	2:27,589,625	C/T	—	pathogenic
rs2465503801	2:27,589,629	T/C	—	likely benign
rs2465503839	2:27,589,637	C/T	—	uncertain significance
rs1257522983	2:27,589,644	G/C	—	likely benign
rs113994036	2:27,589,645	G/T	missense variant	pathogenic
rs756150677	2:27,589,652	G/C	—	uncertain significance
rs1681893596	2:27,589,658	G/A	—	likely benign
rs144124145	2:27,589,662	G/A	—	likely benign
rs2465504012	2:27,589,665	G/A	—	likely benign
rs2465504024	2:27,589,671	T/C	—	likely benign
rs2465504035	2:27,589,672	G/A	—	uncertain significance
rs749762984	2:27,589,674	G/T	—	likely benign
rs886055901	2:27,589,681	G/A	—	uncertain significance
rs745579285	2:27,589,688	C/G	—	uncertain significance
rs113994035	2:27,589,697	G/A	missense variant	pathogenic

Showing 100 of 367 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.