SMG7 SMG7 nonsense mediated mRNA decay factor

Information
Symbol
SMG7
Type
protein-coding
Description
SMG7 nonsense mediated mRNA decay factor
Entrez Gene ID
9887
Genome
hg19
Position
chr1:183,441,635-183,523,309
Genome
hg38
Position
chr1:183,472,500-183,554,174
MIM
610964 OMIM
HGNC
HGNC:16792 HGNC
Ensembl
ENSG00000116698 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 100
Ranking
ClinVar
0
0
0
102
2
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 C1orf16
SYNONYM EST1C
SYNONYM SGA56M
MIM 610964 OMIM
HGNC HGNC:16792 HGNC
Ensembl ENSG00000116698 Ensembl
AllianceGenome HGNC:16792
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000515829.6 hg38 chr1 183,472,527 183,554,190 81,664
ENST00000688051.1 hg38 chr1 183,472,499 183,554,191 81,693
ENST00000508461.5 hg38 chr1 183,472,500 183,552,263 79,764
ENST00000685780.1 hg38 chr1 183,472,500 183,554,174 81,675
ENST00000367537.7 hg38 chr1 183,472,478 183,554,193 81,716
ENST00000347615.6 hg38 chr1 183,472,502 183,554,186 81,685
ENST00000507469.5 hg38 chr1 183,472,503 183,554,188 81,686
ENST00000367537.7 hg19 chr1 183,441,613 183,523,328 81,716
ENST00000688051.1 hg19 chr1 183,441,634 183,523,326 81,693
ENST00000508461.5 hg19 chr1 183,441,635 183,521,398 79,764
ENST00000685780.1 hg19 chr1 183,441,635 183,523,309 81,675
ENST00000347615.6 hg19 chr1 183,441,637 183,523,321 81,685
ENST00000507469.5 hg19 chr1 183,441,638 183,523,323 81,686
ENST00000515829.6 hg19 chr1 183,441,662 183,523,325 81,664
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