EIF1AX eukaryotic translation initiation factor 1A X-linked

Information
Symbol
EIF1AX
Type
protein-coding
Description
eukaryotic translation initiation factor 1A X-linked
Entrez Gene ID
1964
Genome
hg19
Position
chrX:20,142,643-20,159,956
Genome
hg38
Position
chrX:20,124,525-20,141,838
MIM
300186 OMIM
HGNC
HGNC:3250 HGNC
Ensembl
ENSG00000173674 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 4
not provided 11 0
Uncertain significance 0 4
Ranking
ClinVar
0
0
0
8
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
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 EIF1A
SYNONYM EIF1AP1
SYNONYM EIF4C
SYNONYM eIF-1A
SYNONYM eIF-4C
MIM 300186 OMIM
HGNC HGNC:3250 HGNC
Ensembl ENSG00000173674 Ensembl
AllianceGenome HGNC:3250
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379593.1 hg38 chrX 20,128,078 20,141,826 13,749
ENST00000379607.10 hg38 chrX 20,124,525 20,141,838 17,314
ENST00000379607.10 hg19 chrX 20,142,643 20,159,956 17,314
ENST00000379593.1 hg19 chrX 20,146,196 20,159,944 13,749
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