EFTUD2 elongation factor Tu GTP binding domain containing 2

Information
Symbol
EFTUD2
Type
protein-coding
Description
elongation factor Tu GTP binding domain containing 2
Entrez Gene ID
9343
Genome
hg19
Position
chr17:42,927,316-42,976,813
Genome
hg38
Position
chr17:44,849,948-44,899,445
MIM
603892 OMIM
HGNC
HGNC:30858 HGNC
Ensembl
ENSG00000108883 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 152
Likely pathogenic 0 114
Benign 0 214
Likely benign 0 434
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 370
Ranking
ClinVar
0
0
148
1,058
40
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 MFDGA
SYNONYM MFDM
SYNONYM SNRNP116
SYNONYM Snrp116
SYNONYM Snu114
SYNONYM U5-116KD
MIM 603892 OMIM
HGNC HGNC:30858 HGNC
Ensembl ENSG00000108883 Ensembl
AllianceGenome HGNC:30858
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000591382.5 hg38 chr17 44,850,916 44,899,368 48,453
ENST00000592576.5 hg38 chr17 44,850,866 44,899,431 48,566
ENST00000402521.7 hg38 chr17 44,851,120 44,899,445 48,326
ENST00000426333.7 hg38 chr17 44,849,948 44,899,445 49,498
ENST00000426333.7 hg19 chr17 42,927,316 42,976,813 49,498
ENST00000402521.7 hg19 chr17 42,928,488 42,976,813 48,326
ENST00000592576.5 hg19 chr17 42,928,234 42,976,799 48,566
ENST00000591382.5 hg19 chr17 42,928,284 42,976,736 48,453
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