rs2465503801
This variant is located in the EIF2B4 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout EIF2B4
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]
View all EIF2B4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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