MTRES1 mitochondrial transcription rescue factor 1
Information
- Symbol
- MTRES1
- Type
- protein-coding
- Description
- mitochondrial transcription rescue factor 1
- Entrez Gene ID
- 51250
- Genome
- hg19
- Position
- chr6:107,349,773-107,372,539
- Genome
- hg38
- Position
- chr6:107,028,569-107,051,335
- MIM
- 618583 OMIM
- HGNC
- HGNC:17971 HGNC
- Ensembl
- ENSG00000130349 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 4 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
6 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | C6orf203 |
| SYNONYM | HSPC230 |
| SYNONYM | PRED31 |
| MIM | 618583 OMIM |
| HGNC | HGNC:17971 HGNC |
| Ensembl | ENSG00000130349 Ensembl |
| AllianceGenome | HGNC:17971 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000311381.8 | hg38 | chr6 | 107,028,199 | 107,051,586 | 23,388 |
| ENST00000405204.6 | hg38 | chr6 | 107,028,213 | 107,051,336 | 23,124 |
| ENST00000625458.1 | hg38 | chr6 | 107,028,569 | 107,051,335 | 22,767 |
| ENST00000311381.8 | hg19 | chr6 | 107,349,403 | 107,372,790 | 23,388 |
| ENST00000405204.6 | hg19 | chr6 | 107,349,417 | 107,372,540 | 23,124 |
| ENST00000625458.1 | hg19 | chr6 | 107,349,773 | 107,372,539 | 22,767 |
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