chr1:173831632:T>C Detail (hg38) (DARS2)

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

Information

Genome

Assembly	Position
hg19	chr1:173,800,770-173,800,770 View the variant detail on this assembly version.
hg38	chr1:173,831,632-173,831,632

HGVS

DARS2

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000647645.1:c.492+2T>C
	ENST00000648458.1:c.492+2T>C
	ENST00000648807.1:c.492+2T>C
	ENST00000648960.1:c.492+2T>C
	ENST00000649067.1:c.492+2T>C
	ENST00000649689.2:c.492+2T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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	COSM328076	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-04-11	criteria provided, multiple submitters, no conflicts	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	germline unknown	Detail
Pathogenic	2023-12-18	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2015-01-15	criteria provided, single submitter		unknown	Detail
Pathogenic	2017-01-01	criteria provided, single submitter	gout,Hypertensive disorder,clubfoot	unknown	Detail
Pathogenic	2017-01-01	criteria provided, single submitter	gout,Hypertensive disorder,clubfoot	unknown	Detail
Pathogenic	2017-01-01	criteria provided, single submitter	gout,Hypertensive disorder,clubfoot	unknown	Detail
Pathogenic	2022-05-04	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

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
NM_018122.5(DARS2):c.492+2T>C AND Leukoencephalopathy with brain stem and spinal cord involvement-hi...	ClinVar	Detail
NM_018122.5(DARS2):c.492+2T>C AND not provided	ClinVar	Detail
NM_018122.5(DARS2):c.492+2T>C AND multiple conditions	ClinVar	Detail
NM_018122.5(DARS2):c.492+2T>C AND multiple conditions	ClinVar	Detail
NM_018122.5(DARS2):c.492+2T>C AND multiple conditions	ClinVar	Detail
NM_018122.5(DARS2):c.492+2T>C AND multiple conditions	ClinVar	Detail
NM_018122.5(DARS2):c.492+2T>C AND Inborn genetic diseases	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs142433332 dbSNP
Genome: hg38
Position: chr1:173,831,632-173,831,632
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8642
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120718
Allele Counts in All Race (ExAC): 37
Heterozygous Counts in All Race (ExAC): 37
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.064994449874915E-4

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