INSM1 INSM transcriptional repressor 1

Information
Symbol
INSM1
Type
protein-coding
Description
INSM transcriptional repressor 1
Entrez Gene ID
3642
Genome
hg19
Position
chr20:20,348,748-20,351,593
Genome
hg38
Position
chr20:20,368,104-20,370,949
MIM
600010 OMIM
HGNC
HGNC:6090 HGNC
Ensembl
ENSG00000173404 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 4
Uncertain significance 0 60
Ranking
ClinVar
0
0
0
66
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 IA-1
SYNONYM IA1
MIM 600010 OMIM
HGNC HGNC:6090 HGNC
Ensembl ENSG00000173404 Ensembl
AllianceGenome HGNC:6090
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000310227.3 hg38 chr20 20,368,104 20,370,949 2,846
ENST00000310227.3 hg19 chr20 20,348,748 20,351,593 2,846
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