chrM:10158:T>C Detail (hg38) (MT-ND3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrM:10,159-10,159 View the variant detail on this assembly version. |
| hg38 | chrM:10,158-10,158 |
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
|
2004-09-01 | no assertion criteria provided | Mitochondrial complex 1 deficiency, mitochondrial type 1 |
germline
|
Detail |
|
Pathogenic
|
2019-10-17 | criteria provided, single submitter | Leigh syndrome |
germline
|
Detail |
|
Pathogenic
|
2017-06-16 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-10-26 | reviewed by expert panel | Mitochondrial disease |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Leigh syndrome due to mitochondrial complex I deficiency | NA | CLINVAR | Detail | |
| 0.250 | Leigh disease | NA | CLINVAR | Detail | |
| 0.240 | mitochondrial complex I deficiency | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_012920.1(MT-ND3):m.10158T>C AND Mitochondrial complex 1 deficiency, mitochondrial type 1 | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10158T>C AND Leigh syndrome | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10158T>C AND not provided | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10158T>C AND Mitochondrial disease | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs199476117 dbSNP
- Genome
- hg38
- Position
- chrM:10,158-10,158
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser