EEF1AKMT3 EEF1A lysine methyltransferase 3

Information
Symbol
EEF1AKMT3
Type
protein-coding
Description
EEF1A lysine methyltransferase 3
Entrez Gene ID
25895
Genome
hg19
Position
chr12:58,166,397-58,176,324
Genome
hg38
Position
chr12:57,772,614-57,782,541
MIM
615258 OMIM
HGNC
HGNC:24936 HGNC
Ensembl
ENSG00000123427 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
34
0
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 :
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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 FAM119B
SYNONYM METTL21B
MIM 615258 OMIM
HGNC HGNC:24936 HGNC
Ensembl ENSG00000123427 Ensembl
AllianceGenome HGNC:24936
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000548256.5 hg38 chr12 57,771,492 57,780,430 8,939
ENST00000333012.5 hg38 chr12 57,772,678 57,782,541 9,864
ENST00000300209.13 hg38 chr12 57,772,614 57,782,541 9,928
ENST00000551420.1 hg38 chr12 57,772,200 57,780,780 8,581
ENST00000548256.5 hg19 chr12 58,165,275 58,174,213 8,939
ENST00000551420.1 hg19 chr12 58,165,983 58,174,563 8,581
ENST00000300209.13 hg19 chr12 58,166,397 58,176,324 9,928
ENST00000333012.5 hg19 chr12 58,166,461 58,176,324 9,864
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