chrM:5178:C>A Detail (hg38) (MT-ND2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrM:5,179-5,179 View the variant detail on this assembly version. |
| hg38 | chrM:5,178-5,178 |
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 |
|---|---|---|---|---|---|
Benign
|
2019-10-17 | criteria provided, single submitter | Leigh syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | Sensorineural Hearing Loss (disorder) | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL a... | BeFree | 23560644 | Detail |
| <0.001 | Sensorineural Hearing Loss (disorder) | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL a... | BeFree | 23560644 | Detail |
| <0.001 | Sensorineural Hearing Loss (disorder) | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL a... | BeFree | 23560644 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_012920.1(MT-ND2):m.5178C>A AND Leigh syndrome | ClinVar | Detail |
| Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease... | DisGeNET | Detail |
| Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease... | DisGeNET | Detail |
| Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs28357984 dbSNP
- Genome
- hg38
- Position
- chrM:5,178-5,178
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser