QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1

Information
Symbol
QRSL1
Type
protein-coding
Description
glutaminyl-tRNA amidotransferase subunit QRSL1
Entrez Gene ID
55278
Genome
hg19
Position
chr6:107,077,453-107,116,292
Genome
hg38
Position
chr6:106,629,578-106,668,417
MIM
617209 OMIM
HGNC
HGNC:21020 HGNC
Ensembl
ENSG00000130348 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 10
Likely pathogenic 0 4
Benign 0 64
Likely benign 0 78
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 98
Ranking
ClinVar
0
0
44
200
2
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 COXPD40
SYNONYM GatA
MIM 617209 OMIM
HGNC HGNC:21020 HGNC
Ensembl ENSG00000130348 Ensembl
AllianceGenome HGNC:21020
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000369046.8 hg38 chr6 106,629,578 106,668,417 38,840
ENST00000369044.1 hg38 chr6 106,629,614 106,653,823 24,210
ENST00000369046.8 hg19 chr6 107,077,453 107,116,292 38,840
ENST00000369044.1 hg19 chr6 107,077,489 107,101,698 24,210
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