DARS1 aspartyl-tRNA synthetase 1

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Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: DARS1
Type: protein-coding
Description: aspartyl-tRNA synthetase 1
Entrez Gene ID: 1615
Genome: hg19
Position: chr2:136,663,451-136,743,196
Genome: hg38
Position: chr2:135,905,881-135,985,626
MIM: 603084 OMIM
HGNC: HGNC:2678 HGNC
Ensembl: ENSG00000115866 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	14
Likely pathogenic	0	6
Benign	0	42
Likely benign	0	138
Conflicting classifications of pathogenicity	0	14
Uncertain significance	0	152

Ranking

	ClinVar
	0
	0
	52
	286
	12

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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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	DARS
SYNONYM	HBSL
SYNONYM	aspRS
MIM	603084 OMIM
HGNC	HGNC:2678 HGNC
Ensembl	ENSG00000115866 Ensembl
AllianceGenome	HGNC:2678

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000264161.9	hg38	chr2	135,905,881	135,985,626	79,746
ENST00000264161.9	hg19	chr2	136,663,451	136,743,196	79,746

Key	Value
strand	-
start	136,663,450
Gene Symbol	DARS
Entrez GeneId	1,615
Chr Band	2q21.3
end	136,743,253
chr	chr2

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