{{Rsnum
|rsid=843358
|Gene=EIF2B5
|Chromosome=3
|position=184143455
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.3714
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=EIF2B5
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 8.0 | 50.4 | 41.6
| HCB | 31.9 | 45.2 | 23.0
| JPT | 25.7 | 56.6 | 17.7
| YRI | 8.8 | 49.7 | 41.5
| ASW | 12.3 | 38.6 | 49.1
| CHB | 31.9 | 45.2 | 23.0
| CHD | 26.6 | 45.0 | 28.4
| GIH | 23.0 | 45.0 | 32.0
| LWK | 13.8 | 47.7 | 38.5
| MEX | 19.3 | 35.1 | 45.6
| MKK | 1.9 | 31.0 | 67.1
| TSI | 6.9 | 42.2 | 51.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=843358
|allele=G
|frequency=0.292
|uid=1103656315782
|type=heterozygous_SNP
|hugo=EIF2B5
|ensembl gene=ENSG00000145191
|ensembl transcript=ENST00000273783
|sift=TOLERATED
|disease=Defects in EIF2B5 are a cause of Cree leukoencephalopathy (CLE) (MIM:603896). CLE is a rapidly fatal infantile autosomal recessive leukodystrophy that is observed in the native Cree and Chippewayan indigenous population of northern Quebec and Manitoba.
}}

{{ neighbor
| rsid = 28937596
| distance = 656
}}

{{GET Evidence
|gene=EIF2B5
|aa_change=Ile587Val
|aa_change_short=I587V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs843358
|overall_frequency_n=3534
|overall_frequency_d=10758
|overall_frequency=0.3285
|n_genomes=28
|n_genomes_annotated=0
|n_haplomes=35
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.001
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}