chr22:46731611:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:46,731,611-46,753,237 |
| hg38 | chr22:46,335,714-46,357,340 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Diabetes Mellitus, Non-Insulin-Dependent | NA | GAD | Detail | |
| 0.002 | Sensorineural Hearing Loss (disorder) | NA | GAD | Detail | |
| <0.001 | Leigh disease | NA | BeFree | Detail | |
| <0.001 | liver cirrhosis | NA | BeFree | Detail | |
| <0.001 | Liver diseases | NA | BeFree | Detail | |
| <0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| <0.001 | Liver failure | NA | BeFree | Detail | |
| <0.001 | Liver Failure, Acute | NA | BeFree | Detail | |
| <0.001 | MERRF syndrome | NA | BeFree | Detail | |
| <0.001 | Hereditary sideroblastic anemia | Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, ... | BeFree | 25193871 | Detail |
| <0.001 | Developmental delay (disorder) | Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, ... | BeFree | 25193871 | Detail |
| <0.001 | Cardiomyopathies | NA | BeFree | Detail | |
| <0.001 | Cirrhosis | NA | BeFree | Detail | |
| 0.240 | DEAFNESS, AMINOGLYCOSIDE-INDUCED | NA | CTD_human,ORPHANET | Detail | |
| 0.120 | MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT | NA | ORPHANET | Detail | |
| 0.360 | LIVER FAILURE, INFANTILE, TRANSIENT | NA | CTD_human,ORPHANET,UNIPROT | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developm... | DisGeNET | Detail |
| Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developm... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr22:46,731,611-46,753,237
- Variant Type
- snv
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