EEF1AKMT1 EEF1A lysine methyltransferase 1

Information
Symbol
EEF1AKMT1
Type
protein-coding
Description
EEF1A lysine methyltransferase 1
Entrez Gene ID
221143
Genome
hg19
Position
chr13:21,302,870-21,348,100
Genome
hg38
Position
chr13:20,728,731-20,773,961
MIM
617793 OMIM
HGNC
HGNC:27351 HGNC
Ensembl
ENSG00000150456 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 2
Ranking
ClinVar
0
0
0
2
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 :
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 ESP13
SYNONYM N6AMT2
SYNONYM eEF1A-KMT
MIM 617793 OMIM
HGNC HGNC:27351 HGNC
Ensembl ENSG00000150456 Ensembl
AllianceGenome HGNC:27351
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000382758.6 hg38 chr13 20,728,731 20,773,961 45,231
ENST00000382754.4 hg38 chr13 20,728,931 20,773,918 44,988
ENST00000382758.6 hg19 chr13 21,302,870 21,348,100 45,231
ENST00000382754.4 hg19 chr13 21,303,070 21,348,057 44,988
Genome browser