SMIM19 small integral membrane protein 19

Information
Symbol
SMIM19
Type
protein-coding
Description
small integral membrane protein 19
Entrez Gene ID
114926
Genome
hg19
Position
chr8:42,396,728-42,410,338
Genome
hg38
Position
chr8:42,541,585-42,555,195
HGNC
HGNC:25166 HGNC
Ensembl
ENSG00000176209 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Uncertain significance 0 44
Ranking
ClinVar
0
0
0
50
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 C8orf40
HGNC HGNC:25166 HGNC
Ensembl ENSG00000176209 Ensembl
AllianceGenome HGNC:25166
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000490331.2 hg38 chr8 42,546,428 42,552,726 6,299
ENST00000417410.7 hg38 chr8 42,541,585 42,555,195 13,611
ENST00000438528.7 hg38 chr8 42,541,155 42,555,193 14,039
ENST00000414154.6 hg38 chr8 42,541,613 42,552,980 11,368
ENST00000416469.6 hg38 chr8 42,541,793 42,552,608 10,816
ENST00000438528.7 hg19 chr8 42,396,298 42,410,336 14,039
ENST00000417410.7 hg19 chr8 42,396,728 42,410,338 13,611
ENST00000414154.6 hg19 chr8 42,396,756 42,408,123 11,368
ENST00000416469.6 hg19 chr8 42,396,936 42,407,751 10,816
ENST00000490331.2 hg19 chr8 42,401,571 42,407,869 6,299
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