ISM1 isthmin 1

Information
Symbol
ISM1
Type
protein-coding
Description
isthmin 1
Entrez Gene ID
140862
Genome
hg19
Position
chr20:13,201,921-13,281,298
Genome
hg38
Position
chr20:13,221,274-13,300,651
MIM
615793 OMIM
HGNC
HGNC:16213 HGNC
Ensembl
ENSG00000101230 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 18
Uncertain significance 0 52
Ranking
ClinVar
0
0
0
78
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 :
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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 C20orf82
SYNONYM ISM
SYNONYM Isthmin
SYNONYM bA149I18.1
SYNONYM dJ1077I2.1
MIM 615793 OMIM
HGNC HGNC:16213 HGNC
Ensembl ENSG00000101230 Ensembl
AllianceGenome HGNC:16213
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000262487.5 hg38 chr20 13,221,274 13,300,651 79,378
ENST00000262487.5 hg19 chr20 13,201,921 13,281,298 79,378
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