VARS1 valyl-tRNA synthetase 1

Information
Symbol
VARS1
Type
protein-coding
Description
valyl-tRNA synthetase 1
Entrez Gene ID
7407
Genome
hg19
Position
chr6:31,745,295-31,763,529
Genome
hg38
Position
chr6:31,777,518-31,795,752
MIM
192150 OMIM
HGNC
HGNC:12651 HGNC
Ensembl
ENSG00000204394 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 24
Likely pathogenic 0 30
Benign 0 36
Likely benign 0 60
Conflicting classifications of pathogenicity 0 14
not provided 11 0
Uncertain significance 0 230
Ranking
ClinVar
0
0
54
298
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 G7A
SYNONYM NDMSCA
SYNONYM VARS
SYNONYM VARS2
MIM 192150 OMIM
HGNC HGNC:12651 HGNC
Ensembl ENSG00000204394 Ensembl
AllianceGenome HGNC:12651
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000375663.8 hg38 chr6 31,777,518 31,795,752 18,235
ENST00000375663.8 hg19 chr6 31,745,295 31,763,529 18,235
Genome browser