chr1:173797450:>C 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
Genome browser