SMG6 SMG6 nonsense mediated mRNA decay factor

Information
Symbol
SMG6
Type
protein-coding
Description
SMG6 nonsense mediated mRNA decay factor
Entrez Gene ID
23293
Genome
hg19
Position
chr17:1,963,137-2,207,079
Genome
hg38
Position
chr17:2,059,843-2,303,785
MIM
610963 OMIM
HGNC
HGNC:17809 HGNC
Ensembl
ENSG00000070366 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 18
Uncertain significance 0 174
Ranking
ClinVar
0
0
0
202
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 :
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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 C17orf31
SYNONYM EST1A
SYNONYM SMG-6
SYNONYM hEST1A
SYNONYM hSMG5/7a
MIM 610963 OMIM
HGNC HGNC:17809 HGNC
Ensembl ENSG00000070366 Ensembl
AllianceGenome HGNC:17809
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000354901.8 hg38 chr17 2,059,850 2,266,199 206,350
ENST00000536871.6 hg38 chr17 2,061,405 2,237,037 175,633
ENST00000263073.11 hg38 chr17 2,059,843 2,303,785 243,943
ENST00000263073.11 hg19 chr17 1,963,137 2,207,079 243,943
ENST00000354901.8 hg19 chr17 1,963,144 2,169,493 206,350
ENST00000536871.6 hg19 chr17 1,964,699 2,140,331 175,633
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