CARS1 cysteinyl-tRNA synthetase 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: CARS1
Type: protein-coding
Description: cysteinyl-tRNA synthetase 1
Entrez Gene ID: 833
Genome: hg19
Position: chr11:3,022,159-3,078,653
Genome: hg38
Position: chr11:3,000,929-3,057,423
MIM: 123859 OMIM
HGNC: HGNC:1493 HGNC
Ensembl: ENSG00000110619 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	10
Likely pathogenic	0	4
Benign	0	26
Likely benign	0	40
Uncertain significance	0	134

Ranking

	ClinVar
	0
	0
	12
	188
	8

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

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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
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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Target data	:	MGeND data only
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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
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	CARS
SYNONYM	CYSRS
SYNONYM	MCDDBH
SYNONYM	MDBH
SYNONYM	MGC:11246
MIM	123859 OMIM
HGNC	HGNC:1493 HGNC
Ensembl	ENSG00000110619 Ensembl
AllianceGenome	HGNC:1493

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000529772.5	hg38	chr11	3,000,930	3,057,402	56,473
ENST00000397111.9	hg38	chr11	3,000,922	3,057,613	56,692
ENST00000380525.9	hg38	chr11	3,000,929	3,057,423	56,495
ENST00000278224.13	hg38	chr11	3,000,929	3,057,418	56,490
ENST00000397111.9	hg19	chr11	3,022,152	3,078,843	56,692
ENST00000278224.13	hg19	chr11	3,022,159	3,078,648	56,490
ENST00000380525.9	hg19	chr11	3,022,159	3,078,653	56,495
ENST00000529772.5	hg19	chr11	3,022,160	3,078,632	56,473

Key	Value
strand	-
UniProt	OG
start	3,022,151
Gene Symbol	CARS
Entrez GeneId	833
Chr Band	11p15.5
end	3,078,680
chr	chr11
Name	cysteinyl-tRNA synthetase

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