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 | |||||
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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 | |||
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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 | |||
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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 |
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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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