IRS1 insulin receptor substrate 1

Information
Symbol
IRS1
Type
protein-coding
Description
insulin receptor substrate 1
Entrez Gene ID
3667
Genome
hg19
Position
chr2:227,596,028-227,664,536
Genome
hg38
Position
chr2:226,731,312-226,799,820
MIM
147545 OMIM
HGNC
HGNC:6125 HGNC
Ensembl
ENSG00000169047 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 32
Likely benign 0 24
not provided 15 0
risk factor 0 2
Uncertain significance 0 126
Ranking
ClinVar
0
0
16
160
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 HIRS-1
MIM 147545 OMIM
HGNC HGNC:6125 HGNC
Ensembl ENSG00000169047 Ensembl
AllianceGenome HGNC:6125
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000305123.6 hg38 chr2 226,731,312 226,799,820 68,509
ENST00000305123.6 hg19 chr2 227,596,028 227,664,536 68,509
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