GEMIN7 gem nuclear organelle associated protein 7

Information
Symbol
GEMIN7
Type
protein-coding
Description
gem nuclear organelle associated protein 7
Entrez Gene ID
79760
Genome
hg19
Position
chr19:45,582,518-45,594,776
Genome
hg38
Position
chr19:45,079,260-45,091,518
MIM
607419 OMIM
HGNC
HGNC:20045 HGNC
Ensembl
ENSG00000142252 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 10
Ranking
ClinVar
0
0
0
12
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 :
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 SIP3
MIM 607419 OMIM
HGNC HGNC:20045 HGNC
Ensembl ENSG00000142252 Ensembl
AllianceGenome HGNC:20045
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000270257.9 hg38 chr19 45,079,260 45,091,518 12,259
ENST00000391951.2 hg38 chr19 45,079,269 45,090,713 11,445
ENST00000591607.1 hg38 chr19 45,079,195 45,090,869 11,675
ENST00000591747.5 hg38 chr19 45,079,258 45,090,537 11,280
ENST00000591607.1 hg19 chr19 45,582,453 45,594,127 11,675
ENST00000591747.5 hg19 chr19 45,582,516 45,593,795 11,280
ENST00000270257.9 hg19 chr19 45,582,518 45,594,776 12,259
ENST00000391951.2 hg19 chr19 45,582,527 45,593,971 11,445
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