TIMM17B translocase of inner mitochondrial membrane 17B
Information
- Symbol
- TIMM17B
- Type
- protein-coding
- Description
- translocase of inner mitochondrial membrane 17B
- Entrez Gene ID
- 10245
- Genome
- hg19
- Position
- chrX:48,750,731-48,755,426
- Genome
- hg38
- Position
- chrX:48,893,448-48,898,143
- MIM
- 300249 OMIM
- HGNC
- HGNC:17310 HGNC
- Ensembl
- ENSG00000126768 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 8 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 18 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
28 |
 |
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
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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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| Search word | : | |
| 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
|
| Category | : |
|
| 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 | DXS9822 |
| SYNONYM | JM3 |
| SYNONYM | TIM17B |
| MIM | 300249 OMIM |
| HGNC | HGNC:17310 HGNC |
| Ensembl | ENSG00000126768 Ensembl |
| AllianceGenome | HGNC:17310 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000495490.6 | hg38 | chrX | 48,893,453 | 48,897,790 | 4,338 |
| ENST00000396779.7 | hg38 | chrX | 48,893,448 | 48,898,143 | 4,696 |
| ENST00000376582.7 | hg38 | chrX | 48,893,447 | 48,898,143 | 4,697 |
| ENST00000465150.6 | hg38 | chrX | 48,893,447 | 48,897,762 | 4,316 |
| ENST00000696123.1 | hg38 | chrX | 48,893,449 | 48,897,768 | 4,320 |
| ENST00000696124.1 | hg38 | chrX | 48,893,449 | 48,897,860 | 4,412 |
| ENST00000465150.6 | hg19 | chrX | 48,750,730 | 48,755,045 | 4,316 |
| ENST00000376582.7 | hg19 | chrX | 48,750,730 | 48,755,426 | 4,697 |
| ENST00000396779.7 | hg19 | chrX | 48,750,731 | 48,755,426 | 4,696 |
| ENST00000696123.1 | hg19 | chrX | 48,750,732 | 48,755,051 | 4,320 |
| ENST00000696124.1 | hg19 | chrX | 48,750,732 | 48,755,143 | 4,412 |
| ENST00000495490.6 | hg19 | chrX | 48,750,736 | 48,755,073 | 4,338 |
| Key | Value |
|---|---|
| strand | - |
| start | 48,750,729 |
| Gene Symbol | TIMM17B |
| Entrez GeneId | 10,245 |
| Chr Band | Xp11.23 |
| end | 48,755,425 |
| chr | chrX |
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