chrM:8356:T>C Detail (hg38) (MT-TK)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrM:8,357-8,357 View the variant detail on this assembly version. |
| hg38 | chrM:8,356-8,356 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2010-10-01 | no assertion criteria provided | MERRF syndrome |
germline
maternal
|
Detail |
|
Pathogenic
|
2010-10-01 | no assertion criteria provided | MERRF/MELAS overlap syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-05-04 | criteria provided, multiple submitters, no conflicts | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke |
germline
|
Detail |
|
Likely pathogenic
|
2023-03-13 | reviewed by expert panel | Mitochondrial disease |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.124 | MERRF syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| m.8356T>C AND MERRF syndrome | ClinVar | Detail |
| m.8356T>C AND MERRF/MELAS overlap syndrome | ClinVar | Detail |
| m.8356T>C AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar | Detail |
| m.8356T>C AND Mitochondrial disease | ClinVar | Detail |
| NA | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs118192099 dbSNP
- Genome
- hg38
- Position
- chrM:8,356-8,356
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser