MARS1 methionyl-tRNA synthetase 1

Information
Symbol
MARS1
Type
protein-coding
Description
methionyl-tRNA synthetase 1
Entrez Gene ID
4141
Genome
hg19
Position
chr12:57,881,851-57,910,435
Genome
hg38
Position
chr12:57,488,068-57,516,652
MIM
156560 OMIM
HGNC
HGNC:6898 HGNC
Ensembl
ENSG00000166986 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 12
Likely pathogenic 0 6
Benign 0 72
Likely benign 0 518
Conflicting classifications of pathogenicity 0 62
no classification for the single variant 0 2
Uncertain significance 0 814
Ranking
ClinVar
0
0
326
1,042
14
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 CMT2U
SYNONYM ILFS2
SYNONYM ILLD
SYNONYM MARS
SYNONYM METRS
SYNONYM MRS
SYNONYM MTRNS
SYNONYM SPG70
SYNONYM TTD9
MIM 156560 OMIM
HGNC HGNC:6898 HGNC
Ensembl ENSG00000166986 Ensembl
AllianceGenome HGNC:6898
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000630803.1 hg38 chr12 57,488,091 57,490,351 2,261
ENST00000628866.2 hg38 chr12 57,488,068 57,516,649 28,582
ENST00000262027.10 hg38 chr12 57,488,068 57,516,652 28,585
ENST00000630571.2 hg38 chr12 57,488,091 57,489,911 1,821
ENST00000262027.10 hg19 chr12 57,881,851 57,910,435 28,585
ENST00000628866.2 hg19 chr12 57,881,851 57,910,432 28,582
ENST00000630571.2 hg19 chr12 57,881,874 57,883,694 1,821
ENST00000630803.1 hg19 chr12 57,881,874 57,884,134 2,261
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