TBXT T-box transcription factor T
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 14 |
Likely benign | 0 | 14 |
risk factor | 0 | 2 |
Uncertain significance | 0 | 64 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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6 |
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86 |
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4 |
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 | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | SAVA |
SYNONYM | T |
SYNONYM | TFT |
MIM | 601397 OMIM |
HGNC | HGNC:11515 HGNC |
Ensembl | ENSG00000164458 Ensembl |
AllianceGenome | HGNC:11515 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000296946.6 | hg38 | chr6 | 166,157,656 | 166,168,619 | 10,964 |
ENST00000366876.7 | hg38 | chr6 | 166,157,656 | 166,167,851 | 10,196 |
ENST00000366871.7 | hg38 | chr6 | 166,157,656 | 166,168,700 | 11,045 |
ENST00000366876.7 | hg19 | chr6 | 166,571,144 | 166,581,339 | 10,196 |
ENST00000296946.6 | hg19 | chr6 | 166,571,144 | 166,582,107 | 10,964 |
ENST00000366871.7 | hg19 | chr6 | 166,571,144 | 166,582,188 | 11,045 |
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