chrM:10197:G>A Detail (hg19) (MT-ND3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrM:10,197-10,197 |
| hg38 | chrM:10,196-10,196 |
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
|
2009-10-01 | no assertion criteria provided | Mitochondrial complex 1 deficiency, mitochondrial type 1 |
germline
|
Detail |
|
Pathogenic
|
2009-10-01 | no assertion criteria provided | Leber optic atrophy and dystonia |
germline
|
Detail |
Pathogenic
Likely pathogenic
|
2019-10-17 | criteria provided, multiple submitters, no conflicts | Leigh syndrome |
de novo
germline
|
Detail |
|
Pathogenic
|
2017-09-29 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-05-04 | criteria provided, single submitter | Mitochondrial DNA-Associated Leigh Syndrome and NARP |
germline
|
Detail |
|
Pathogenic
|
2022-09-22 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Pathogenic
|
2022-07-25 | reviewed by expert panel | Mitochondrial disease |
germline
|
Detail |
|
Likely pathogenic
|
2023-06-15 | criteria provided, single submitter |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_012920.1(MT-ND3):m.10197G>A AND Mitochondrial complex 1 deficiency, mitochondrial type 1 | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10197G>A AND Leber optic atrophy and dystonia | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10197G>A AND Leigh syndrome | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10197G>A AND not provided | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10197G>A AND Mitochondrial DNA-Associated Leigh Syndrome and NARP | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10197G>A AND not specified | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10197G>A AND Mitochondrial disease | ClinVar | Detail |
| NC_012920.1(MT-ND3):m.10197G>A AND See cases | ClinVar | Detail |
- Gene
- -
- dbSNP
- rs267606891 dbSNP
- Genome
- hg19
- Position
- chrM:10,197-10,197
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser