GEM GTP binding protein overexpressed in skeletal muscle

Information
Symbol
GEM
Type
protein-coding
Description
GTP binding protein overexpressed in skeletal muscle
Entrez Gene ID
2669
Genome
hg19
Position
chr8:95,261,481-95,274,547
Genome
hg38
Position
chr8:94,249,253-94,262,319
MIM
600164 OMIM
HGNC
HGNC:4234 HGNC
Ensembl
ENSG00000164949 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
26
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 KIR
MIM 600164 OMIM
HGNC HGNC:4234 HGNC
Ensembl ENSG00000164949 Ensembl
AllianceGenome HGNC:4234
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000297596.3 hg38 chr8 94,249,253 94,262,319 13,067
ENST00000396194.6 hg38 chr8 94,249,253 94,262,350 13,098
ENST00000297596.3 hg19 chr8 95,261,481 95,274,547 13,067
ENST00000396194.6 hg19 chr8 95,261,481 95,274,578 13,098
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