RARS1 arginyl-tRNA synthetase 1

Information
Symbol
RARS1
Type
protein-coding
Description
arginyl-tRNA synthetase 1
Entrez Gene ID
5917
Genome
hg19
Position
chr5:167,913,476-167,946,306
Genome
hg38
Position
chr5:168,486,471-168,519,301
MIM
107820 OMIM
HGNC
HGNC:9870 HGNC
Ensembl
ENSG00000113643 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 24
Likely pathogenic 0 22
Benign 0 192
Likely benign 0 222
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 216
Ranking
ClinVar
0
0
100
550
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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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 :
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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 :
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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 ArgRS
SYNONYM DALRD1
SYNONYM HLD9
SYNONYM RARS
MIM 107820 OMIM
HGNC HGNC:9870 HGNC
Ensembl ENSG00000113643 Ensembl
AllianceGenome HGNC:9870
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000626454.1 hg38 chr5 168,486,499 168,488,615 2,117
ENST00000231572.8 hg38 chr5 168,486,471 168,519,301 32,831
ENST00000231572.8 hg19 chr5 167,913,476 167,946,306 32,831
ENST00000626454.1 hg19 chr5 167,913,504 167,915,620 2,117
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