chrM:8345:A>G Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrM:8,345-8,345 |
| hg38 | chrM:8,344-8,344 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Links
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
Pathogenic
|
MERRF |
germline
|
MGS000009
(TMGS000012) |
Shoji Tsuji | Tokyo University |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.121 | Leigh disease | NA | CLINVAR | Detail | |
| 0.124 | MERRF syndrome | NA | CLINVAR | Detail | |
| 0.120 | PARKINSON DISEASE, MITOCHONDRIAL (disorder) | NA | CLINVAR | Detail |
Annotation
Genome browser