chrM:8344:A>G Detail (hg38) (MT-TK)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrM:8,345-8,345 View the variant detail on this assembly version. |
| hg38 | chrM:8,344-8,344 |
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
Likely pathogenic
|
2022-05-31 | criteria provided, multiple submitters, no conflicts | MERRF syndrome |
germline
maternal
|
Detail |
|
Pathogenic
|
2010-10-01 | no assertion criteria provided | Leigh syndrome |
germline
|
Detail |
|
Pathogenic
|
2010-10-01 | no assertion criteria provided | Parkinson disease, mitochondrial |
germline
|
Detail |
|
Pathogenic
|
2019-12-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-11-03 | reviewed by expert panel | Mitochondrial disease |
germline
|
Detail |
|
Pathogenic
|
2022-05-04 | criteria provided, multiple submitters, no conflicts | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke |
germline
|
Detail |
|
Pathogenic
|
2021-07-20 | criteria provided, single submitter | MT-TK-related mitochondrial disorder |
maternal
|
Detail |
|
Pathogenic
|
2023-03-09 | no assertion criteria provided | MT-TK-related disorder |
maternal
|
Detail |
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
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_012920.1(MT-TK):m.8344A>G AND MERRF syndrome | ClinVar | Detail |
| NC_012920.1(MT-TK):m.8344A>G AND Leigh syndrome | ClinVar | Detail |
| NC_012920.1(MT-TK):m.8344A>G AND Parkinson disease, mitochondrial | ClinVar | Detail |
| NC_012920.1(MT-TK):m.8344A>G AND not provided | ClinVar | Detail |
| NC_012920.1(MT-TK):m.8344A>G AND Mitochondrial disease | ClinVar | Detail |
| NC_012920.1(MT-TK):m.8344A>G AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar | Detail |
| NC_012920.1(MT-TK):m.8344A>G AND MT-TK-related mitochondrial disorder | ClinVar | Detail |
| NC_012920.1(MT-TK):m.8344A>G AND MT-TK-related disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs118192098 dbSNP
- Genome
- hg38
- Position
- chrM:8,344-8,344
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser