chrM:8361:G>A Detail (hg38) (MT-TK)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrM:8,362-8,362 View the variant detail on this assembly version. |
| hg38 | chrM:8,361-8,361 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2003-12-01 | no assertion criteria provided | MERRF syndrome |
germline
maternal
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.124 | MERRF syndrome | NA | CLINVAR | Detail |
Annotation
Genome browser