chr1:173838207:G>A Detail (hg38) (DARS2)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000647645.1:c.788G>A ENST00000647645.1:p.Arg263Gln
ENST00000648458.1:c.788G>A ENST00000648458.1:p.Arg263Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
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 tgv3806140 TogoVar
COSMIC COSM5015795 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-02-17 criteria provided, single submitter Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome germline maternal Detail
Conflicting interpretations of pathogenicity 2022-06-25 criteria provided, conflicting interpretations not provided 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

DescrptionSourceLinks
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) AND Leukoencephalopathy with brain stem and spinal cord in... ClinVar Detail
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) AND not provided ClinVar Detail
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
hg38
Position
chr1:173,838,207-173,838,207
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs121918207
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1566042100393245E-4
Chromosome Counts in All Race (ExAC)
121094
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.3032189869027366E-5
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