SMIM27 small integral membrane protein 27

Information
Symbol
SMIM27
Type
protein-coding
Description
small integral membrane protein 27
Entrez Gene ID
100129250
Genome
hg19
Position
chr9:32,551,142-32,553,005
Genome
hg38
Position
chr9:32,551,144-32,553,007
HGNC
HGNC:31420 HGNC
Ensembl
ENSG00000235453 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 8
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
34
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 C9orf133
SYNONYM TOPORS-AS1
HGNC HGNC:31420 HGNC
Ensembl ENSG00000235453 Ensembl
AllianceGenome HGNC:31420
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000451672.2 hg38 chr9 32,552,329 32,568,621 16,293
ENST00000453396.5 hg38 chr9 32,551,144 32,553,007 1,864
ENST00000644531.1 hg38 chr9 32,552,345 32,553,012 668
ENST00000692500.1 hg38 chr9 32,552,327 32,553,007 681
ENST00000453396.5 hg19 chr9 32,551,142 32,553,005 1,864
ENST00000692500.1 hg19 chr9 32,552,325 32,553,005 681
ENST00000451672.2 hg19 chr9 32,552,327 32,568,619 16,293
ENST00000644531.1 hg19 chr9 32,552,343 32,553,010 668
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