chr1:173797450:>CC Detail (hg19) (DARS2)

Information

Genome

Assembly Position
hg19 chr1:173,797,450-173,797,450
hg38 chr1:173,828,312-173,828,312 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
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

DescrptionSourceLinks
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs367543010 dbSNP
Genome
hg19
Position
chr1:173,797,450-173,797,450
Variant Type
snv
Reference Allele
-
Alternative Allele
CC
Genome browser