SMG5 SMG5 nonsense mediated mRNA decay factor

Information
Symbol
SMG5
Type
protein-coding
Description
SMG5 nonsense mediated mRNA decay factor
Entrez Gene ID
23381
Genome
hg19
Position
chr1:156,219,015-156,252,616
Genome
hg38
Position
chr1:156,249,224-156,282,825
MIM
610962 OMIM
HGNC
HGNC:24644 HGNC
Ensembl
ENSG00000198952 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 8
Uncertain significance 0 108
Ranking
ClinVar
0
0
0
120
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 EST1B
SYNONYM LPTS-RP1
SYNONYM LPTSRP1
SYNONYM SMG-5
MIM 610962 OMIM
HGNC HGNC:24644 HGNC
Ensembl ENSG00000198952 Ensembl
AllianceGenome HGNC:24644
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000361813.5 hg38 chr1 156,249,224 156,282,825 33,602
ENST00000361813.5 hg19 chr1 156,219,015 156,252,616 33,602
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