chr1:173831593:G>T Detail (hg38) (DARS2)

Information

Genome

Assembly Position
hg19 chr1:173,800,731-173,800,731 View the variant detail on this assembly version.
hg38 chr1:173,831,593-173,831,593

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000647645.1:c.455G>T ENST00000647645.1:p.Cys152Phe
ENST00000648458.1:c.455G>T ENST00000648458.1:p.Cys152Phe
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
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
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 Detail
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2022-05-16 criteria provided, single submitter unknown Detail
Pathogenic 2024-01-18 criteria provided, single submitter DARS2-related disorder 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.455G>T (p.Cys152Phe) AND Leukoencephalopathy with brain stem and spinal cord in... ClinVar Detail
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) AND not provided ClinVar Detail
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) AND See cases ClinVar Detail
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) AND DARS2-related disorder 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
rs121918208 dbSNP
Genome
hg38
Position
chr1:173,831,593-173,831,593
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
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)
121122
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.43052459503641E-5
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