EIF4A3 eukaryotic translation initiation factor 4A3

Information
Symbol
EIF4A3
Type
protein-coding
Description
eukaryotic translation initiation factor 4A3
Entrez Gene ID
9775
Genome
hg19
Position
chr17:78,108,168-78,120,927
Genome
hg38
Position
chr17:80,134,369-80,147,128
MIM
608546 OMIM
HGNC
HGNC:18683 HGNC
Ensembl
ENSG00000141543 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 8
Likely benign 0 16
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 20
Ranking
ClinVar
0
0
2
42
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 DDX48
SYNONYM Fal1
SYNONYM MUK34
SYNONYM NMP265
SYNONYM NUK34
SYNONYM RCPS
SYNONYM eIF-4A-III
SYNONYM eIF4A-III
SYNONYM eIF4AIII
MIM 608546 OMIM
HGNC HGNC:18683 HGNC
Ensembl ENSG00000141543 Ensembl
AllianceGenome HGNC:18683
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000647795.1 hg38 chr17 80,135,299 80,147,151 11,853
ENST00000649764.2 hg38 chr17 80,134,369 80,147,128 12,760
ENST00000576547.2 hg38 chr17 80,135,349 80,147,139 11,791
ENST00000649764.2 hg19 chr17 78,108,168 78,120,927 12,760
ENST00000647795.1 hg19 chr17 78,109,098 78,120,950 11,853
ENST00000576547.2 hg19 chr17 78,109,148 78,120,938 11,791
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