TSC22D1 TSC22 domain family member 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 20 |
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
[No Data.]
Locus Zoom
Variants
Search Word
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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 | |||||||||||
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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 | HUCEP-2 |
| SYNONYM | Ptg-2 |
| SYNONYM | TGFB1I4 |
| SYNONYM | TSC22 |
| MIM | 607715 OMIM |
| HGNC | HGNC:16826 HGNC |
| Ensembl | ENSG00000102804 Ensembl |
| AllianceGenome | HGNC:16826 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000261489.7 | hg38 | chr13 | 44,432,143 | 44,436,858 | 4,716 |
| ENST00000611198.4 | hg38 | chr13 | 44,432,143 | 44,474,301 | 42,159 |
| ENST00000458659.3 | hg38 | chr13 | 44,432,143 | 44,576,330 | 144,188 |
| ENST00000622051.1 | hg38 | chr13 | 44,432,143 | 44,437,254 | 5,112 |
| ENST00000261489.7 | hg19 | chr13 | 45,006,279 | 45,010,994 | 4,716 |
| ENST00000622051.1 | hg19 | chr13 | 45,006,279 | 45,011,390 | 5,112 |
| ENST00000611198.4 | hg19 | chr13 | 45,006,279 | 45,048,437 | 42,159 |
| ENST00000458659.3 | hg19 | chr13 | 45,006,279 | 45,150,466 | 144,188 |
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