IARS1 isoleucyl-tRNA synthetase 1

Information
Symbol
IARS1
Type
protein-coding
Description
isoleucyl-tRNA synthetase 1
Entrez Gene ID
3376
Genome
hg19
Position
chr9:94,972,489-95,055,982
Genome
hg38
Position
chr9:92,210,207-92,293,700
MIM
600709 OMIM
HGNC
HGNC:5330 HGNC
Ensembl
ENSG00000196305 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 38
Likely pathogenic 0 14
Benign 0 74
Likely benign 0 244
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 316
Ranking
ClinVar
0
0
98
550
20
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 :
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 GRIDHH
SYNONYM IARS
SYNONYM ILERS
SYNONYM ILRS
SYNONYM IRS
SYNONYM PRO0785
MIM 600709 OMIM
HGNC HGNC:5330 HGNC
Ensembl ENSG00000196305 Ensembl
AllianceGenome HGNC:5330
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000683565.1 hg38 chr9 92,210,238 92,293,693 83,456
ENST00000682578.1 hg38 chr9 92,210,349 92,293,695 83,347
ENST00000443024.7 hg38 chr9 92,210,207 92,293,697 83,491
ENST00000684557.1 hg38 chr9 92,210,243 92,293,695 83,453
ENST00000683469.1 hg38 chr9 92,210,349 92,293,716 83,368
ENST00000375643.7 hg38 chr9 92,210,207 92,293,700 83,494
ENST00000683679.1 hg38 chr9 92,210,349 92,293,689 83,341
ENST00000375643.7 hg19 chr9 94,972,489 95,055,982 83,494
ENST00000443024.7 hg19 chr9 94,972,489 95,055,979 83,491
ENST00000683679.1 hg19 chr9 94,972,631 95,055,971 83,341
ENST00000682578.1 hg19 chr9 94,972,631 95,055,977 83,347
ENST00000683469.1 hg19 chr9 94,972,631 95,055,998 83,368
ENST00000683565.1 hg19 chr9 94,972,520 95,055,975 83,456
ENST00000684557.1 hg19 chr9 94,972,525 95,055,977 83,453
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