chr1:173807345:G>C Detail (hg19) (DARS2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:173,807,345-173,807,345
hg38	chr1:173,838,207-173,838,207 View the variant detail on this assembly version.

HGVS

DARS2

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000648960.1:c.788G>C	ENST00000648960.1:p.Arg263Pro
	ENST00000649067.1:c.788G>C	ENST00000649067.1:p.Arg263Pro
	ENST00000647645.1:c.788G>C	ENST00000647645.1:p.Arg263Pro
	ENST00000648458.1:c.788G>C	ENST00000648458.1:p.Arg263Pro
	ENST00000648807.1:c.788G>C	ENST00000648807.1:p.Arg263Pro
	ENST00000649689.2:c.788G>C	ENST00000649689.2:p.Arg263Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

DARS2

Type	Database	ID	Link
Gene	MIM	610956	OMIM
	HGNC	25538	HGNC
	Ensembl	ENSG00000117593	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.481	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs121918207 dbSNP
Genome: hg19
Position: chr1:173,807,345-173,807,345
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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