chrM:13094:T>C Detail (hg19) (MT-ND5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrM:13,094-13,094 |
| hg38 | chrM:13,093-13,093 |
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
|
2022-03-17 | criteria provided, multiple submitters, no conflicts | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke |
de novo
germline
|
Detail |
|
Pathogenic
|
2022-05-04 | criteria provided, single submitter | Leber optic atrophy |
germline
|
Detail |
|
Pathogenic
|
2022-07-25 | reviewed by expert panel | Mitochondrial disease |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_012920.1:m.13094T>C AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar | Detail |
| NC_012920.1:m.13094T>C AND Leber optic atrophy | ClinVar | Detail |
| NC_012920.1:m.13094T>C AND Mitochondrial disease | ClinVar | Detail |
- Gene
- -
- dbSNP
- rs1603224029 dbSNP
- Genome
- hg19
- Position
- chrM:13,094-13,094
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser