SMG8 SMG8 nonsense mediated mRNA decay factor

Information
Symbol
SMG8
Type
protein-coding
Description
SMG8 nonsense mediated mRNA decay factor
Entrez Gene ID
55181
Genome
hg19
Position
chr17:57,286,761-57,292,600
Genome
hg38
Position
chr17:59,209,400-59,215,239
MIM
613175 OMIM
HGNC
HGNC:25551 HGNC
Ensembl
ENSG00000167447 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 2
Benign 0 6
Likely benign 0 18
Uncertain significance 0 80
Ranking
ClinVar
0
0
4
110
6
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 ALKUS
SYNONYM C17orf71
MIM 613175 OMIM
HGNC HGNC:25551 HGNC
Ensembl ENSG00000167447 Ensembl
AllianceGenome HGNC:25551
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000578922.1 hg38 chr17 59,209,867 59,212,044 2,178
ENST00000543872.6 hg38 chr17 59,209,400 59,215,239 5,840
ENST00000300917.10 hg38 chr17 59,210,035 59,215,230 5,196
ENST00000543872.6 hg19 chr17 57,286,761 57,292,600 5,840
ENST00000578922.1 hg19 chr17 57,287,228 57,289,405 2,178
ENST00000300917.10 hg19 chr17 57,287,396 57,292,591 5,196
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