chrM:10191:T>C Detail (hg19) (MT-ND3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrM:10,191-10,191 |
| hg38 | chrM:10,190-10,190 |
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
|
2004-01-01 | 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 |
Likely pathogenic
|
no assertion criteria provided | mitochondrial complex I deficiency |
germline
|
Detail | |
|
Pathogenic
|
2022-08-23 | reviewed by expert panel | Mitochondrial disease |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_012920.1(MT-ND3):m.10191T>C AND Mitochondrial complex 1 deficiency, mitochondrial type 1 | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10191T>C AND Leigh syndrome | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10191T>C AND Mitochondrial complex I deficiency | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10191T>C AND Mitochondrial disease | ClinVar | Detail |
- Gene
- -
- dbSNP
- rs267606890 dbSNP
- Genome
- hg19
- Position
- chrM:10,191-10,191
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser