TBX22 T-box transcription factor 22
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 20 |
| Likely pathogenic | 0 | 8 |
| Benign | 0 | 38 |
| Likely benign | 0 | 40 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 86 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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24 |
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134 |
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26 |
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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| 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 | ABERS |
| SYNONYM | CLPA |
| SYNONYM | CPX |
| SYNONYM | TBXX |
| SYNONYM | dJ795G23.1 |
| MIM | 300307 OMIM |
| HGNC | HGNC:11600 HGNC |
| Ensembl | ENSG00000122145 Ensembl |
| AllianceGenome | HGNC:11600 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000373294.8 | hg38 | chrX | 80,022,242 | 80,031,769 | 9,528 |
| ENST00000373296.8 | hg38 | chrX | 80,014,753 | 80,031,774 | 17,022 |
| ENST00000373296.8 | hg19 | chrX | 79,270,252 | 79,287,273 | 17,022 |
| ENST00000373294.8 | hg19 | chrX | 79,277,741 | 79,287,268 | 9,528 |
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