TSN translin
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 10 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
10 |
 |
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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| 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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| 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 | BCLF-1 |
| SYNONYM | C3PO |
| SYNONYM | RCHF1 |
| SYNONYM | REHF-1 |
| SYNONYM | TBRBP |
| SYNONYM | TRSLN |
| MIM | 600575 OMIM |
| HGNC | HGNC:12379 HGNC |
| Ensembl | ENSG00000211460 Ensembl |
| AllianceGenome | HGNC:12379 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000536142.5 | hg38 | chr2 | 121,755,545 | 121,767,853 | 12,309 |
| ENST00000389682.8 | hg38 | chr2 | 121,755,651 | 121,767,853 | 12,203 |
| ENST00000409193.1 | hg38 | chr2 | 121,756,171 | 121,765,661 | 9,491 |
| ENST00000536142.5 | hg19 | chr2 | 122,513,121 | 122,525,429 | 12,309 |
| ENST00000389682.8 | hg19 | chr2 | 122,513,227 | 122,525,429 | 12,203 |
| ENST00000409193.1 | hg19 | chr2 | 122,513,747 | 122,523,237 | 9,491 |
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