EIF2S3 eukaryotic translation initiation factor 2 subunit gamma

Information
Symbol
EIF2S3
Type
protein-coding
Description
eukaryotic translation initiation factor 2 subunit gamma
Entrez Gene ID
1968
Genome
hg19
Position
chrX:24,073,073-24,096,927
Genome
hg38
Position
chrX:24,054,956-24,078,810
MIM
300161 OMIM
HGNC
HGNC:3267 HGNC
Ensembl
ENSG00000130741 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 8
Likely pathogenic 0 10
Benign 0 12
Likely benign 0 28
Conflicting classifications of pathogenicity 0 4
not provided 6 0
Uncertain significance 0 58
Ranking
ClinVar
0
0
16
84
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM EIF2
SYNONYM EIF2G
SYNONYM EIF2gamma
SYNONYM MEHMO
SYNONYM MRXSBRK
SYNONYM eIF-2gA
SYNONYM eIF2gX
MIM 300161 OMIM
HGNC HGNC:3267 HGNC
Ensembl ENSG00000130741 Ensembl
AllianceGenome HGNC:3267
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000253039.9 hg38 chrX 24,054,956 24,078,810 23,855
ENST00000253039.9 hg19 chrX 24,073,073 24,096,927 23,855
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